A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1-Reference-Cited by-同舟云学术

A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1

Published:2014-03 Issue:1 Volume:538 Page:30-35
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Agha Zehra^ORCID,Iqbal Zafar,Azam Maleeha,Siddique Maimoona^ORCID,Willemsen Marjolein H.,Kleefstra Tjitske,Zweier Christiane,de Leeuw Nicole,Qamar Raheel,van Bokhoven Hans

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference39 articles.

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4. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders;Ching;Am. J. Med. Genet. B Neuropsychiatr. Genet.,2010

5. Susceptibility pathways in Fanconi's anemia and breast cancer;D'Andrea;N. Engl. J. Med.,2010

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