All individuals with variants in gene USP53

17 entries on 1 page. Showing entries 1 - 17.
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00303468 Fam1 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - ? see paper; ... 1 1 Johan den Dunnen
00303469 Fam2 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - ? see paper; ... 2 1 Johan den Dunnen
00303470 Fam3 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - ? see paper; ... 2 1 Johan den Dunnen
00303471 Fam4 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - ? see paper; ... 2 1 Johan den Dunnen
00303472 Fam5 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - ? see paper; ... 2 1 Johan den Dunnen
00303473 Fam6 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - ? see paper; ... 2 1 Johan den Dunnen
00303474 Fam7 PubMed: Zhang 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - ? see paper; ... 2 1 Johan den Dunnen
00303475 Fam Alawbathani ESHG2020 C15.09 2-generation family, 1 affected - yes Saudi Arabia - - - - - ? see paper; ... 1 1 Johan den Dunnen
00303476 Fam Alawbathani ESHG2020 C15.09 2-generation family, 1 affected - yes Saudi Arabia - - - - - ? see paper; ... 1 1 Johan den Dunnen
00303477 Fam Alawbathani ESHG2020 C15.09 2-generation family, 1 affected - yes Saudi Arabia - - - - - ? see paper; ... 1 1 Johan den Dunnen
00303478 Fam Alawbathani ESHG2020 C15.09 2-generation family, 1 affected - yes Saudi Arabia - - - - - ? see paper; ... 1 1 Johan den Dunnen
00303479 Fam Alawbathani ESHG2020 C15.09 2-generation family, 1 affected - yes Saudi Arabia - - - - - ? see paper; ... 1 1 Johan den Dunnen
00303480 Fam5PatIII1 PubMed: Maddirevula 2019 5-generation family, 3 affected, unaffected heterozygous carrier parents/relatives F - Saudi Arabia - - - - - ? intractable itching, normal GGT cholestasis; deafness; 6y-living-related liver transplantation, 23y alive 1 3 Johan den Dunnen
00307082 Pat7 PubMed: Motta 2020, Journal: Motta 2020 - M no Spain white - - - - NDD birth height 47 cm (-1.52 SD), weight 2,170 g (-2.75 SD), OFC 33.5 cm (-1.11 SD); height 111 cm (-2.88 SD), weight 18 kg (-2.65 SD), OFC 48 cm (-3.25 SD); developmental delay; intellectual disability; speech delay; severe attention deficit hyperactivity disorder; learning disorder; hypotonia; 5y-epilepsy, generalized seizures, controlled with valproic acid; no cardiac defect; hyperlaxity, short and puffy hands and feet, tapered fingers, mild metatarsus varus; prominent metopic ridge, bitemporal narrowing, mild hypertelorism, downslanted palpebral fissures, ptosis, low-set posteriorly rotated ears, wide nasal bridge, high arched palate, widely spaced teeth, pointed chin, low posterior hairline, webbed/short neck; no skin anomalies; no cryptorchidism; no GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems; normal MRI/CT 2 1 Johan den Dunnen
00457273 Fam5PatV1 PubMed: Maddirevula 2019 relative F yes Saudi Arabia - - - - - ? hypocalcemia, intractable itching; deafness; 15y-alive with native liver 1 1 Johan den Dunnen
00457274 Fam5PatV4 PubMed: Maddirevula 2019 relative M yes Saudi Arabia - - - - - ? intractable itching, normal GGT cholestasis; 3y-alive with native liver 1 1 Johan den Dunnen
00464333 - - - M yes Egypt - - - - - PFIC - 1 1 Mohamed A. Elmonem
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