UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassingUBE2Agene-Reference-Cited by-同舟云学术

UBE2A deficiency syndrome: A report of two unrelated cases with large Xq24 deletions encompassingUBE2Agene

Published:2014-10-06 Issue:1 Volume:167 Page:204-210
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Thunstrom Sofia¹,Sodermark Liv²,Ivarsson Liz³,Samuelsson Lena¹,Stefanova Margarita¹⁴⁵

Affiliation:

1. Department of Clinical Genetics; Sahlgrenska University Hospital; Gothenburg Sweden

2. Department of Paediatrics; Queen Silvia Children's; Hospital; Gothenburg Sweden

3. Department of Paediatric Radiology; Queen Silvia Children's Hospital; Gothenburg Sweden

4. Department of Medical and Clinical Genetics; Sahlgrenska Academy; Institute of Biomedicine; University of Gothenburg; Gothenburg Sweden

5. Department of Clinical Genetics; Linkoping University Hospital; Linkoping Sweden

Funder

Ann Mari och Per Ahlqvist Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference16 articles.

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2. Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome;Budny;Clin Genet,2010

3. Molecular characterization of the MLL-SEPT6 fusion gene in acute myeloid leukemia: Identification of novel fusion transcripts and cloning of genomic breakpoint junctions;Cerveira;Haematologica,2008

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

5. UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients;de Leeuw;Am J Med Genet Part A,2010

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