title: HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).
abstract: A combination of hypoparathyroidism, sensorineural deafness, and renal dysplasia has been considered to be a new syndrome inherited in an autosomal dominant fashion; we name the condition "HDR syndrome." We describe a Japanese girl who has HDR syndrome associated with de novo del(10)(p13). The chromosome deletion suggests that the putative gene(s) responsible for HDR syndrome is located at a 10pter-->p13 region.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Y
authors.initials: Y
authors.lastname: Hasegawa
authors.forename: T
authors.initials: T
authors.lastname: Aso
authors.forename: S
authors.initials: S
authors.lastname: Koto
authors.forename: T
authors.initials: T
authors.lastname: Nagai
authors.forename: Y
authors.initials: Y
authors.lastname: Tsuchiya
authors.forename: K C
authors.initials: KC
authors.lastname: Kim
authors.forename: H
authors.initials: H
authors.lastname: Ohashi
authors.forename: K
authors.initials: K
authors.lastname: Wakui
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
mesh_terms: D000328:Adult; D002118:Calcium / Q000097:blood; D002675:Child, Preschool; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10; D003638:Deafness / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007011:Hypoparathyroidism / Q000150:complications / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D013577:Syndrome; D014034:Toes / Q000002:abnormalities
chemical_list: D002118:Calcium