A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa.

Mégarbané, André

A newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa. [electronic resource] - American journal of medical genetics. Part A Oct 2004 - 176-80 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4825

10.1002/ajmg.a.30138 doi


Abnormalities, Multiple--genetics
Child, Preschool
Consanguinity
Female
Humans
Limb Deformities, Congenital--diagnostic imaging
Male
Musculoskeletal Abnormalities
Radiography
Retinitis Pigmentosa--pathology
Syndrome