Axial mesodermal dysplasia spectrum: affected sisters with oculoauriculovertebral "dysplasia" and caudal "regression" sequence.
Dennis
N R
NR
Atwell
J D
JD
D000015:Abnormalities, Multiple / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D004688:Encopresis / Q000235:genetics; D004775:Enuresis / Q000235:genetics; D005260:Female; D006801:Humans; D006869:Hydronephrosis / Q000235:genetics*; D007231:Infant, Newborn; D012447:Sacrum / Q000002:abnormalities*; D013933:Thumb / Q000002:abnormalities*