All individuals with variants in gene CUL7

48 entries on 1 page. Showing entries 1 - 48.
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00004047 - PubMed: Shaheen 2014, Journal: Shaheen 2014 - M yes Saudi Arabia Arab - - - - 3M1 small and mal-aligned teeth, skin and joint laxity, and normal motor and cognitive development 1 1 Fowzan Alkuraya
00208599 Fam301 - - - - - - - - - - cancer, colon - 1 3 Xiang Jiao
00208600 Fam110 - - - - - - - - - - cancer, colon - 1 2 Xiang Jiao
00294111 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00294112 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 20 Mohammed Faruq
00294113 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00294114 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00294115 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00294116 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
00331391 08DG00138, 08DG00139 PubMed: Maddirevula 2018 family, 2 affected (F, M) F;M yes - Arab - - - - skeletal dysplasia Cutis laxa, Joint laxity, Global developmental delay, Failure to thrive, Proportionate short No 1 2 LOVD
00331392 10DG1592, 10DG0199, 10DG1592, 10DG1593 PubMed: Maddirevula 2018 family, 4 affected (3F, M) F;M yes - Arab - - - - skeletal dysplasia Joint laxity, Midface retrusion, Depressed nasal bridge, Thick vermilion border, Prominent Yes 1 4 LOVD
00331393 11DG1211, 11DG1210 PubMed: Maddirevula 2018 family, 2 affected (2M) M yes - Arab - - - - skeletal dysplasia Severe short stature, Feeding difficulties, Triangular face, Broad forehead, Wide nose, Mal Yes 1 2 LOVD
00331394 12DG1575 PubMed: Maddirevula 2018 isolated case F yes - Arab - - - - skeletal dysplasia Short stature, Abnormal heart morphology, Osteopenia, Midface retrusion, Depressed nasno 1 1 LOVD
00331395 17DG0787 PubMed: Maddirevula 2018 isolated case F no - Arab - - - - skeletal dysplasia Short stature, Abnormal facial shape, Failure to thrive 1 1 LOVD
00359454 - - - - - (Brazil) - - - - - 3MC - 1 1 Cynthia Silveira
00359455 Pat2 PubMed: Silveira 2021, Journal: Silveira 2021 - F - Brazil - - - - - 3M - 1 1 Cynthia Silveira
00359462 Fam1 PubMed: Huber 2005 see paper - yes Tunisia - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359463 Fam2 PubMed: Huber 2005 see paper - yes Tunisia - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359464 Fam3 PubMed: Huber 2005 see paper - yes Tunisia - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359465 Fam4 PubMed: Huber 2005 see paper - yes Tunisia - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359466 Fam5 PubMed: Huber 2005 see paper - yes Morocco - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359467 Fam6 PubMed: Huber 2005 see paper - yes Morocco - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359468 Fam7 PubMed: Huber 2005 see paper - yes France - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359469 Fam8 PubMed: Huber 2005 see paper - no France - - - - - 3M see paper; ... 2 1 Johan den Dunnen
00359470 Fam9 PubMed: Huber 2005 see paper - no France - - - - - 3M see paper; ... 2 1 Johan den Dunnen
00359471 Fam10 PubMed: Huber 2005 see paper - yes Algeria - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359472 Fam11 PubMed: Huber 2005 see paper - yes Syria - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359473 Fam12 PubMed: Huber 2005 see paper - no Tunisia - - - - - 3M see paper; ... 2 1 Johan den Dunnen
00359474 Fam13 PubMed: Huber 2005 see paper - yes Portugal - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359475 Fam14 PubMed: Huber 2005 see paper - yes Sri Lanka - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359476 Fam15 PubMed: Huber 2005 see paper - yes Sri Lanka - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359477 Fam16 PubMed: Huber 2005 see paper - yes Sri Lanka - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359478 Fam17 PubMed: Huber 2005 see paper - yes Turkey - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359479 Fam18 PubMed: Huber 2005 see paper - yes Egypt - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359480 Fam19 PubMed: Huber 2005 see paper - yes Turkey - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359481 Fam20 PubMed: Huber 2005 see paper - yes Germany - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359482 Fam21 PubMed: Huber 2005 see paper - no Germany - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359483 Fam22 PubMed: Huber 2005 see paper - no Austria - - - - - 3M see paper; ... 2 1 Johan den Dunnen
00359484 Fam23 PubMed: Huber 2005 see paper - no Austria - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359485 Fam24 PubMed: Huber 2005 see paper - yes Italy - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359486 Fam25 PubMed: Huber 2005 see paper - yes Italy - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359487 Fam26 PubMed: Huber 2005 see paper - yes Italy - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359488 Fam27 PubMed: Huber 2005 see paper - no Suriname - - - - - 3M see paper; ... 2 1 Johan den Dunnen
00359489 Fam28 PubMed: Huber 2005 see paper - yes India - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00359490 Fam29 PubMed: Huber 2005 see paper - yes Brazil - - - - - 3M see paper; ... 1 1 Johan den Dunnen
00375203 - - 2-generation family, the proband has two disease phenotypes. M no China Chinese - - - - 3M, MPS2 , Fleshy prominent heels, large head circumference, coarse face., Short stature 2 1 Xiuli Zhao
00435457 patient - - F no Poland white 03y - - - 3M1 short stature (HP:0004322) 1 2 Katarzyna Bilińska
00465822 Fam16 PubMed: Alazami 2016 family, 2 affected - - Saudi Arabia - - - - - ? see paper; ..., Significant skin and joint laxity, developmental delay, failure to thrive, severe proportionate short stature with relative macrocephaly, dysmorphic features (prominent forehead, hypoplastic midface, depressed nasal root, anteverted nares and full lips), hyperlordosis, thin slender long tubular bones, small pelvises with winged iliac bones, prominent heels 1 2 Johan den Dunnen
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