HDR SYNDROME (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, RENAL DYSPLASIA) ASSOCIATED WITH DEL(10)(P13)

Authors
HASEGAWA T HASEGAWA Y ASO T KOTO S NAGAI T TSUCHIYA Y KIM KC OHASHI H WAKUI K FUKUSHIMA Y
Citation
T. Hasegawa et al., HDR SYNDROME (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, RENAL DYSPLASIA) ASSOCIATED WITH DEL(10)(P13), American journal of medical genetics, 73(4), 1997, pp. 416-418
Citations number
18
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
73
Issue
4
Year of publication
1997
Pages
416 - 418
Database
ISI
SICI code
0148-7299(1997)73:4<416:HS(SDR>2.0.ZU;2-5
Abstract
A combination of hypoparathyroidism, sensorineural deafness, and renal dysplasia has been considered to be a new syndrome inherited in an au tosomal dominant fashion; we name the condition ''HDR syndrome.'' We d escribe a Japanese girl who has HDR syndrome associated with de novo d el(10)(p13). The chromosome deletion suggests that the putative gene(s ) responsible for HDR syndrome is located at a 10pter-->p13 region. (C ) 1997 Wiley-Liss, Inc.