2q31.2q32.3 deletion syndrome: Report of an adult patient-Reference-Cited by-同舟云学术

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2q31.2q32.3 deletion syndrome: Report of an adult patient

Published:2009-02-26 Issue:4 Volume:149A Page:706-712
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Prontera Paolo,Bernardini Laura,Stangoni Gabriela,Capalbo Anna,Rogaia Daniela,Ardisia Carmela,Novelli Antonio,Dallapiccola Bruno,Donti Emilio

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. SUMO1 haploinsufficiency leads to cleft lip and palate;Alkuraya;Science,2006

2. TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression;Andreou;Am J Hum Genet,2007

3. Hypermobility scoring;Beighton;Br J Rheumatol,1988

4. Reproductive history of a healthy woman with mosaic duplication of chromosome 4p;Bernardini;Prenat Diagn,2005

5. Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development;Britanova;Am J Hum Genet,2006

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