Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease.
Nishimura
Gen
G
Hasegawa
Tomonobu
T
Fujino
Motoko
M
Hori
Naoaki
N
Tomita
Yukiharu
Y
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D019080:Cafe-au-Lait Spots / Q000473:pathology*; D002675:Child, Preschool; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D009072:Moyamoya Disease / Q000473:pathology*; D025542:Neurofibromin 1 / Q000235:genetics; D010009:Osteochondrodysplasias / Q000473:pathology*
D025542:Neurofibromin 1