A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa

American Journal of Medical Genetics

Volumn 130 A, Issue 2, 2004, Pages 176-180

  Mégarbané, André ^a   Melick, Nancy ^b   Daou, Linda ^c  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b SAINT GEORGE HOSPITAL UNIVERSITY MEDICAL CENTER   (Lebanon)

^c SAINT JOSEPH UNIVERSITY   (Lebanon)

Author keywords

Photophobia; Platyspondyly; Skeletal dysplasia

Indexed keywords

ARTICLE; BONE DYSPLASIA; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE ASSOCIATION; FEMALE; GROWTH RETARDATION; HUMAN; HYDRAMNIOS; INTESTINE BIOPSY; LABORATORY TEST; LIMB MALFORMATION; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SPONTANEOUS ABORTION; VOICE; X RAY;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MUSCULOSKELETAL ABNORMALITIES; RETINITIS PIGMENTOSA; SYNDROME;

EID: 4644301298     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30138     Document Type: Article

References (10)

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