Eyal Reinstein Ericka B Okenfuss Isha Wadhawan Yael Wilnai Melanie Manning David L Rimoin Ralph S Lachman
10.1007/s13353-013-0136-2
J Appl Genet
2013 May;54(2):231-4.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/23371363/
Osteochondrodysplasias / diagnosis Retinitis Pigmentosa / diagnosis
Osteochondrodysplasias / diagnosis Retinitis Pigmentosa / diagnosis Case Reports Research Support, N.I.H., Extramural Child Humans Male Osteochondrodysplasias / physiopathology Retinitis Pigmentosa / physiopathology Spondylometaphyseal dysplasia, axial
PMC4068338
23371363
Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues
2013