title: Microcephalic osteodysplastic primordial short stature type II with cafe-au-lait spots and moyamoya disease.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Motoko
authors.initials: M
authors.lastname: Fujino
authors.forename: Naoaki
authors.initials: N
authors.lastname: Hori
authors.forename: Yukiharu
authors.initials: Y
authors.lastname: Tomita
mesh_terms: 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*
chemical_list: D025542:Neurofibromin 1