Identification of a SEDL gene mutation in an individual with leber hereditary optic neuropathy and spondyloepiphyseal dysplasia [1]

American Journal of Medical Genetics

Volumn 129, Issue 2, 2004, Pages 206-207

  Shaw, Marie A ^a,b   Gécz, Jozef ^a,b   McDonough, Barbara ^c   Hodess, Arthur B ^d   Harter, Donald H ^e  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c HARVARD MEDICAL SCHOOL   (United States)

^d Brandywine Valley Cardiovasc Assoc   (United States)

^e GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CLINICAL EXAMINATION; COMORBIDITY; GENE; GENE MUTATION; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; LETTER; MALE; PEDIGREE; PRIORITY JOURNAL; SEDL GENE; SPONDYLOEPIPHYSEAL DYSPLASIA; SYNDROME DELINEATION;

EID: 4344609514     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30161     Document Type: Letter

References (13)

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