A splice donor mutation inNAA10results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome-Reference-Cited by-同舟云学术

A splice donor mutation inNAA10results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

Published:2014-01-15 Issue:3 Volume:51 Page:185-196
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Esmailpour Taraneh,Riazifar Hamidreza,Liu Linan,Donkervoort Sandra,Huang Vincent H,Madaan Shreshtha,Shoucri Bassem M,Busch Anke,Wu Jie,Towbin Alexander,Chadwick Robert B,Sequeira Adolfo,Vawter Marquis P,Sun Guoli,Johnston Jennifer J,Biesecker Leslie G,Kawaguchi Riki,Sun Hui,Kimonis Virginia,Huang Taosheng

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference34 articles.

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2. Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes;Bardakjian;BMC Med Genet,2009

3. X-linked clinical anophthalmos. Localization of the gene to Xq27-Xq28;Graham;Ophthalmic Paediatr Genet,1991

4. Manifestations in four males with and an obligate carrier of the Lenz microphthalmia syndrome;Forrester;Am J Med Genet,2001

5. Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?;Ng;Am J Med Genet,2002

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