NR2F1 mutations cause optic atrophy with intellectual disability

American Journal of Human Genetics

Volumn 94, Issue 2, 2014, Pages 303-309

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

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Institute for the Visually Impaired   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY   (Netherlands)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f TEXAS CHILDREN S HOSPITAL   (United States)

^g HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; COUP TRANSCRIPTION FACTOR I; DNA-BINDING PROTEINS; FEMALE; GENOTYPE; HUMANS; INTELLECTUAL DISABILITY; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OPTIC ATROPHY; PHENOTYPE; YOUNG ADULT; ZINC FINGERS;

EID: 84893770103     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.01.002     Document Type: Article

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