title: Molecular pathology of Shprintzen-Goldberg syndrome.
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.forename: Daisuke
authors.initials: D
authors.lastname: Takahashi
authors.forename: Toru
authors.initials: T
authors.lastname: Udaka
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Morio
authors.initials: M
authors.lastname: Matsumoto
authors.forename: Shigeharu
authors.initials: S
authors.lastname: Ibe
authors.forename: Takeshi
authors.initials: T
authors.lastname: Isobe
authors.forename: Yoko
authors.initials: Y
authors.lastname: Tanaka
authors.forename: Takao
authors.initials: T
authors.lastname: Takahashi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D017398:Alternative Splicing / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000473:pathology; D003398:Craniosynostoses / Q000473:pathology*; D004252:DNA Mutational Analysis; D000071837:Fibrillins; D005385:Fingers / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000473:pathology; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D013577:Syndrome
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II