title: Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Toshiki
authors.initials: T
authors.lastname: Takenouchi
authors.forename: Tatsuhiko
authors.initials: T
authors.lastname: Yagihashi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Tsuchiya
authors.forename: Chiharu
authors.initials: C
authors.lastname: Torii
authors.forename: Kumiko
authors.initials: K
authors.lastname: Hayashi
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Shinji
authors.initials: S
authors.lastname: Saitoh
authors.forename: Takao
authors.initials: T
authors.lastname: Takahashi
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
mesh_terms: D002648:Child; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D019066:Facies; D005260:Female; D006801:Humans; D006985:Hyperventilation / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D008607:Intellectual Disability / Q000209:etiology* / Q000235:genetics* / Q000473:pathology; D009030:Mosaicism; D012303:Ring Chromosomes