title: Stippled calcification in an infant with a recurrent SRCAP gene mutation.
authors.affiliation: Division of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.|Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Yagi
authors.affiliation: Division of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.|Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Takagi
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Narumi
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Tomonobu
authors.initials: T
authors.lastname: Hasegawa
authors.affiliation: Division of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.affiliation: Division of Genetic Research, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.|Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Hasegawa
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D001842:Bone and Bones / Q000473:pathology; D002114:Calcinosis / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D008297:Male; D009154:Mutation; D011859:Radiography
chemical_list: D000251:Adenosine Triphosphatases; C119652:SRCAP protein, human