Septo-optic dysplasia, limb anomalies and cutis aplasia: further evidence for overlap between Pagon and Adams-Oliver syndromes.
Pottinger
Caroline Clare
CC
Cheshire and Merseyside Regional Clinical Genetics Department, The Countess of Chester Hospital NHS Foundation Trust, UK.
Joshi
Harish
H
Rowe
Sharon A
SA
Fryer
Alan E
AE
D000015:Abnormalities, Multiple / Q000473:pathology*; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000150:complications* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D025962:Septo-Optic Dysplasia / Q000150:complications* / Q000473:pathology; D013577:Syndrome