NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability-Reference-Cited by-同舟云学术

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Published:2014-02 Issue:2 Volume:94 Page:303-309
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Bosch Daniëlle G.M.,Boonstra F. Nienke,Gonzaga-Jauregui Claudia,Xu Mafei,de Ligt Joep,Jhangiani Shalini,Wiszniewski Wojciech,Muzny Donna M.,Yntema Helger G.,Pfundt Rolph,Vissers Lisenka E.L.M.,Spruijt Liesbeth,Blokland Ellen A.W.,Chen Chun-An,Lewis Richard A.,Tsai Sophia Y.,Gibbs Richard A.,Tsai Ming-Jer,Lupski James R.,Zoghbi Huda Y.,Cremers Frans P.M.,de Vries Bert B.A.,Schaaf Christian P.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

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4. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28;Alexander;Nat. Genet.,2000

5. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract;Reynier;J. Med. Genet.,2004

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