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The First Turkish Case of Hypoparathyroidism, Deafness and Renal Dysplasia (HDR) Syndrome.
Döneray, Hakan; Usui, Takeshi; Kaya, Avni; Dönmez, Ayse Sena.
Afiliação
  • Döneray H; Atatürk University Faculty of Medicine, Department of Pediatric Endocrinology, Erzurum, Turkey Phone: +90 535 944 43 07 E-mail: hdoneray@hotmail.com.
J Clin Res Pediatr Endocrinol ; 7(2): 140-3, 2015 Jun.
Article em En | MEDLINE | ID: mdl-26316437
Hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant genetic disorder characterized by hypoparathyroidism, sensorineural deafness and renal dysplasia. We herein present the first Turkish patient with HDR syndrome, who has a p.R367X mutation. This report indicates that p.R367X is not a mutation specific for the Far Eastern populations and also that urological findings in infants with hypoparathyroidism should be carefully examined because clinical findings relating to the p.R367X mutation may show a variable age of onset.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Perda Auditiva Neurossensorial / Hipoparatireoidismo / Nefropatias Limite: Humans / Infant / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Perda Auditiva Neurossensorial / Hipoparatireoidismo / Nefropatias Limite: Humans / Infant / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2015 Tipo de documento: Article