Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

Molecular Genetics and Genomic Medicine

Volumn 4, Issue 1, 2016, Pages 77-94

  Boone, Philip M ^a   Yuan, Bo ^a   Gu, Shen ^a   Ma, Zhiwei ^b   Gambin, Tomasz ^a   Gonzaga Jauregui, Claudia ^a   Jain, Mahim ^a   Murdock, Todd J ^c   White, Janson J ^a   Jhangiani, Shalini N ^a   Walker, Kimberly ^a   Wang, Qiaoyan ^a   Muzny, Donna M ^a   Gibbs, Richard A ^a   Hejtmancik, J Fielding ^b   Lupski, James R ^a,d   Posey, Jennifer E ^a   Lewis, Richard A ^a,d  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NATIONAL EYE INSTITUTE   (United States)

^c Rocky Mountain Eye and Ear Center   (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

Cataract; Hutterite; LEM domain; LEMD2; MUC21; Recessive; Sudden death

Indexed keywords

EID: 85014577188     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.181     Document Type: Article

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