Distal arthrogryposis type IIB: Unreported ophthalmic findings

American Journal of Medical Genetics

Volumn 127 A, Issue 1, 2004, Pages 35-39

  Sahni, Jayashree ^a   Kaye, Stephen B ^a   Fryer, Alan ^b   Hiscott, Paul ^a   Bucknall, Roger C ^a  

^a ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^b ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Abnormal collagen deposition; Autosomal dominant; Choroidal folds; Distal arthrogryposis; Electron microscopy; Keratoconus; Type IIB

Indexed keywords

ARTHROGRYPOSIS; ARTICLE; ASTIGMATISM; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CAUCASIAN; CHOROID; CLINICAL FEATURE; COLLAGEN DEFECT; CORNEA; DISEASE CLASSIFICATION; DISEASE COURSE; DISTAL ARTHROGRYPOSIS TYPE 2B; ELECTRON MICROSCOPY; FAMILY; FEMALE; HUMAN; HUMAN TISSUE; KERATOCONUS; MALE; NEWBORN; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PTOSIS; STRABISMUS;

EID: 3142725499     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20634     Document Type: Article

References (5)

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