Intrafamilial phenotypic variations in cranioectodermal dysplasia: propositus with typical manifestations and her brother with perinatal death.
Tamai
Shinya
S
Tojo
Masahiro
M
Kamimaki
Tsutomu
T
Sato
Yuko
Y
Nishimura
Gen
G
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000503:physiopathology*; D001842:Bone and Bones / Q000002:abnormalities; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000503:physiopathology*; D004476:Ectodermal Dysplasia / Q000000981:diagnostic imaging / Q000503:physiopathology*; D017809:Fatal Outcome; D005260:Female; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D007867:Leg Bones / Q000002:abnormalities; D008297:Male; D018743:Perinatal Care; D010641:Phenotype; D011859:Radiography