All individuals with variants in gene SHOX

519 entries on 6 pages. Showing entries 1 - 100.
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00050134 - - - F no United States Jewish - 0 - - ISS father shorter (5ft 6in) than his brother and father (5ft 10in) 1 1 Johan den Dunnen
00115074 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 20 Ralph Roeth
00115075 - SHOX Lab Heidelberg, unpublished - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115076 - SHOX Lab Heidelberg, unpublished - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115077 - PubMed: Flanagan 2002 3-generation family, 5 affecteds (3F, 2M) - - Australia - - 0 - - LWD Leri-Weill dyschondrosteosis (LWD), bilateral madelung deformity (BMD) 1 4 Ralph Roeth
00115078 - PubMed: Huber 2006 - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115079 - PubMed: Huber 2001 inheritance familial - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115080 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115081 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 3 Ralph Roeth
00115082 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - ? - 1 1 Ralph Roeth
00115083 - PubMed: Bunyan 2013 - - - United Kingdom (Great Britain) white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115084 - PubMed: Grigelioniene 2001 inheritance familial, found in unaffected mother - - Syria white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115085 - PubMed: Grigelioniene 2001 4-generation family, several affecteds - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115086 - PubMed: Huber 2006 inheritance familial, found in affected mother M - France white - 0 - - ISS short stature, idiopathic (ISS) 1 2 Ralph Roeth
00115087 - PubMed: Grigelioniene 2000 inheritance familial, found in affected father M - Finland white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115088 - PubMed: Rappold 2007 - M - Netherlands white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115089 - SHOX Lab Heidelberg, unpublished 3-generation family, several affecteds F - Netherlands white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115090 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115091 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 2 Ralph Roeth
00115092 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115093 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115094 - Esoterix, unpublished - - - (United States) - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115095 - PubMed: Huber 2006 - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115096 - PubMed: Rappold 2002 found in unaffected father - - Japan Asian - 0 - - ISS short stature, idiopathic (ISS) (normal) 1 2 Ralph Roeth
00115097 - SHOX Lab Heidelberg, unpublished Patient, mother and sister with Crouzon and LWD - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 3 Ralph Roeth
00115098 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115099 - SHOX Lab Heidelberg, unpublished - - - Belgium;France;Germany;Italy;Spain;Sweden;Switzerland;Croatia (Hrvatska);Netherlands white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 33 Ralph Roeth
00115100 - PubMed: Rappold 2002 - - - Japan Asian - 0 - - ISS short stature, idiopathic (ISS) 1 2 Ralph Roeth
00115101 - Silvia C. Souza, Sao Paulo, Brazil, unpublished - - - Brazil - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115102 - PubMed: Rappold 2002 - - - Germany white - 0 - - ISS short stature, idiopathic (ISS) 1 1 Ralph Roeth
00115103 - SHOX Lab Heidelberg, unpublished - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115104 - SHOX Lab Heidelberg, unpublished - - - Russia white - 0 - - ISS short stature, idiopathic (ISS) 1 1 Ralph Roeth
00115105 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - ISS short stature, idiopathic (ISS) 1 1 Ralph Roeth
00115106 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 4 Ralph Roeth
00115107 - SHOX Lab Heidelberg, unpublished - - - Germany;Spain;Hungary;Turkey;Croatia (Hrvatska);Czech Republic;Canada;United States white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 3 Ralph Roeth
00115108 - PubMed: Flanagan 2002 2-generation family, 3 affecteds (3F) - - Australia - - 0 - - LWD Leri-Weill dyschondrosteosis (LWD), bilateral madelung deformity (BMD) 1 2 Ralph Roeth
00115109 - PubMed: Grigelioniene 2001 - - - Sweden white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115110 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115111 - PubMed: Benito-Sanz 2006 - - - Spain white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115112 - SHOX Lab Heidelberg, unpublished inheritance familial, mother affected - - Spain white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115113 - SHOX Lab Heidelberg, unpublished - - - Spain white - 0 - - ISS short stature, idiopathic (ISS) 1 1 Ralph Roeth
00115114 - PubMed: Bunyan 2013 - - - Spain white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115115 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - ISS short stature, idiopathic (ISS) 1 1 Ralph Roeth
00115116 - Esoterix, unpublished - - - (United States) - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 8 Ralph Roeth
00115117 - SHOX Lab Heidelberg, unpublished inheritance familial and unknown - - Belgium;Canada;Croatia (Hrvatska);Czech Republic;France;Germany;Hungary;India;Poland;Russia;Spain;Turkey;United States white - 0 - - LWD - 1 4 Ralph Roeth
00115118 - PubMed: Grigelioniene 2001 - - - - white - 0 - - LWD - 1 4 Ralph Roeth
00115119 - SHOX Lab Heidelberg, unpublished - - - Turkey white - 0 - - ISS short stature, idiopathic (ISS) 1 1 Ralph Roeth
00115120 - PubMed: Flanagan 2002 3-generation family, 9 affecteds (6F, 3M) - - Australia - - 0 - - LWD Leri-Weill dyschondrosteosis (LWD), bilateral madelung deformity (BMD) 1 9 Ralph Roeth
00115121 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115122 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115123 - PubMed: Binder 2004 2-generation family, affected father and 2 sibs - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 3 Ralph Roeth
00115124 - PubMed: Huber 2001 inheritance familial - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115125 - SHOX Lab Heidelberg, unpublished - - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115126 - PubMed: Rappold 2007 inheritance familial, father, 2 sisters and brother affected - - Turkey white - 0 - - ISS short stature, idiopathic (ISS) 1 4 Ralph Roeth
00115127 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115128 - Maria Baffico,Genova, Italy, unpublished inheritance familial - - Denmark white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115129 - PubMed: Rappold 2007 - - - France white - 0 - - ISS short stature, idiopathic (ISS) 1 1 Ralph Roeth
00115130 - PubMed: Zinn 2002 - F - United States - - 0 - - LMD Langer mesomelic dysplasia (LMD) 1 1 Ralph Roeth
00115131 - PubMed: Bunyan 2013 - - - - white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115132 - PubMed: Binder 2004 inheritance familial, mother and sib affected - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 3 Ralph Roeth
00115133 - PubMed: Ross 2001 inheritance familial, found in affected father - - United States white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115134 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115135 - PubMed: Falcinelli 2002 - - - Italy white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115136 - PubMed: Huber 2006 - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115137 - SHOX Lab Heidelberg, unpublished inheritance familial, found in affected father F - Spain white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115138 - PubMed: Grigelioniene 2001 inheritance familial, found in affected mother - - Sweden white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115139 - PubMed: Ross 2001 inheritance familial, father and sister affected - - United States white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 3 Ralph Roeth
00115140 - PubMed: Schneider 2005, {Montalbano 2016 in press} inheritance familial, found in affected mother M - Finland white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115141 - PubMed: Schneider 2005, {Montalbano 2016 in press} inheritance familial, father and sib affected - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 3 Ralph Roeth
00115142 - SHOX Lab Heidelberg, unpublished inheritance familial, found in unaffected mother and brother - - Turkey white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 3 Ralph Roeth
00115143 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115144 - SHOX Lab Heidelberg, unpublished - - - Czech Republic white - 0 - - ISS short stature, idiopathic (ISS) 1 1 Ralph Roeth
00115145 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 2 Ralph Roeth
00115146 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 2 Ralph Roeth
00115147 - PubMed: Binder 2004 inheritance familial, found in affected mother - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115148 - PubMed: Schneider 2005 inheritance familial F - Italy white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115149 - PubMed: Schneider 2005 - - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115150 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115151 - PubMed: Schneider 2005 inheritance familial, father and sister affected - - Croatia (Hrvatska) white - 0 - - ISS short stature, idiopathic (ISS) 1 3 Ralph Roeth
00115152 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115153 - PubMed: A.A.L. Jorge 2006 - - - Brazil - - 0 - - ISS short stature, idiopathic (ISS) 1 1 Ralph Roeth
00115154 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 8 Ralph Roeth
00115155 - PubMed: Ross 2005 - - - United States white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115156 - Esoterix, unpublished - - - - - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115157 - PubMed: Rappold 2007 - - - Russia white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115158 - PubMed: Huber 2001 - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115159 - SHOX Lab Heidelberg, unpublished - - - Czech Republic white - 0 - - ISS short stature, idiopathic (ISS) 1 1 Ralph Roeth
00115160 - SHOX Lab Heidelberg, unpublished inheritance familial, found in affected mother - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115161 - PubMed: Falcinelli 2002 inheritance familial - - Italy white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115162 - PubMed: Stuppia 2003 inheritance familial, found in affected mother - - Italy white - 0 - - ISS short stature, idiopathic (ISS) 1 2 Ralph Roeth
00115163 - PubMed: Stuppia 2003 - - - Italy white - 0 - - ISS short stature, idiopathic (ISS) 1 1 Ralph Roeth
00115164 - PubMed: Stuppia 2003 - - - Italy white - 0 - - ISS short stature, idiopathic (ISS) 1 1 Ralph Roeth
00115165 - PubMed: Zinn 2002 Patient has a second mutation in exon 4 c.487G>T [p.(Val163Phe)] - - United States - - 0 - - LMD Langer mesomelic dysplasia (LMD) 2 1 Ralph Roeth
00115166 - PubMed: Schneider 2005 - M - Finland white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 3 Ralph Roeth
00115167 - PubMed: Schneider 2005 inheritance familial, found in affected mother - - United States white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 2 Ralph Roeth
00115168 - PubMed: Huber 2006 - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115169 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115170 - Esoterix, unpublished - - - United States - - 0 - - ISS short stature, idiopathic (ISS); Leri-Weill dyschondrosteosis? (LWD?) 1 1 Ralph Roeth
00115171 - PubMed: Huber 2001 - - - France white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 1 Ralph Roeth
00115172 - PubMed: Binder 2004, {Montalbano 2016 in press} inheritance familial, found in affected mother - - Germany white - 0 - - LWD Leri-Weill dyschondrosteosis (LWD) 1 5 Ralph Roeth
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