All individuals with variants in gene PTHLH

13 entries on 1 page. Showing entries 1 - 13.
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Owner     
00064685 - PubMed: Klopocki 2010, DECIPHER:BER251557 5-generation family, 27 affecteds (14F, 13M) F;M - - European - - - - BDE2 see paper; …, learning difficulties, phenotype variable but with complete penetrance 1 27 Johan den Dunnen
00064686 - PubMed: Klopocki 2010, DECIPHER:BER251557 3-generation family, 1 affected F - - European - - - - BDE2 see paper; …, tooth problems 1 1 Johan den Dunnen
00064687 - PubMed: Klopocki 2010, DECIPHER:BER251557 2-generation family, 1 affected F - - European - - - - BDE2 see paper; … 1 1 Johan den Dunnen
00064688 - PubMed: Klopocki 2010, DECIPHER:BER251557 3-generation family, 3 affecteds (2F, M) F;M - - European - - - - BDE2 see paper; … 1 3 Johan den Dunnen
00064689 - PubMed: Klopocki 2010, DECIPHER:BER251557 3-generation family, 3 affecteds (2F, M) F;M - - European - - - - BDE2 see paper; …, hypoplastic nails first fingers 1 3 Johan den Dunnen
00079971 - PubMed: Thomas-Teinturier 2016 Sporadic patient F no Spain European - - - - BDE2 - 1 1 Arrate Pereda
00079974 - PubMed: Thomas-Teinturier 2016 2-generation family, 2 affected (proband: daughter; mother) F no (France) - - - - - BDE2 maternally inherited, 2 affected sisters 1 2 Arrate Pereda
00079975 - PubMed: Jamsheer 2016 Sporadic patient F - (Poland) - - - - - BDE2 - 1 1 Arrate Pereda
00079979 - - - F no (Spain) white - - - - BDE2 Mild overweight, advanced bone age (final height below target height), round face, long philtrum, short neck, descended and widely separated nipples, hyperandrogenism 1 1 Arrate Pereda
00079980 - PubMed: Jamsheer 2016 2-generation family, 3 affecteds (2 sisters, father) F;M - (Poland) - - - - - BDE2 - 1 3 Arrate Pereda
00081807 - PubMed: Wang 2015 3-generation family, 7 affecteds (5F, 2M) F;M no China - - - - - BDE2 see paper; ..., brachydactyly type E, short stature 1 7 Guiomar Perez de Nanclares
00207697 - NOT PUBLISHED 2-generation family, 2 affecteds (mother and son) F ? - - - - - - BD HP:0000545 (myopia magna); HP:0004322 1 2 Arrate Pereda
00207698 - - - M ? - - - - - - BD HP:0005863 1 1 Arrate Pereda
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