UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism-Reference-Cited by-同舟云学术

UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism

Published:2017-12-28 Issue:3 Volume:176 Page:722-726
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Giugliano Teresa¹,Santoro Claudia²^ORCID,Torella Annalaura¹,Del Vecchio Blanco Francesca¹,Bernardo Pia³,Nigro Vincenzo¹,Piluso Giulio¹^ORCID

Affiliation:

1. Dipartimento di Biochimica, Biofisica e Patologia Generale; Università degli Studi della Campania “Luigi Vanvitelli,”; Naples Italy

2. Dipartimento della Donna, del Bambino e della Chirurgia generale e specialistica; Università degli Studi della Campania “Luigi Vanvitelli,”; Naples Italy

3. Dipartimento di Salute Mentale, Fisica e Medicina Preventiva, Clinica di Neuropsichiatria Infantile; Università degli Studi della Campania “Luigi Vanvitelli,”; Naples Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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2. An essential role for UBE2A/HR6A in learning and memory and mGLUR-dependent long-term depression;Bruinsma;Human Molecular Genetics,2016

3. Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome;Budny;Clinical Genetics,2010

4. X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity;Czeschik;Orphanet Journal of Rare Diseases,2013

5. UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients;de Leeuw;American Journal of Medical Genetics Part A,2010

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