Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues.
Division of Internal Medicine and Medical Genetics Institute, Rambam Medical Center, Haifa, Israel. reinstein.eyal@gmail.com
Eyal
E
Reinstein
Ericka B
EB
Okenfuss
Isha
I
Wadhawan
Yael
Y
Wilnai
Melanie
M
Manning
David L
DL
Rimoin
Ralph S
RS
Lachman
D002648:Child; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000175:diagnosis* / Q000503:physiopathology