A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency | Zendy

Mauri Carakushansky | Zendy; AJ Whatmore | Zendy; Peter Clayton | Zendy; SM Shalet | Zendy; H Gleeson | Zendy; David A. Price | Zendy; Michael A. Levine | Zendy; Roberto Salvatori | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency

Author(s) -

Mauri Carakushansky,

AJ Whatmore,

Peter Clayton,

SM Shalet,

H Gleeson,

David A. Price,

Michael A. Levine,

Roberto Salvatori

Publication year - 2003

Publication title -

european journal of endocrinology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.897

H-Index - 148

eISSN - 1479-683X

pISSN - 0804-4643

DOI - 10.1530/eje.0.1480025

Subject(s) - ighd , missense mutation , biology , genetics , mutation , growth hormone releasing hormone receptor , mutant , microbiology and biotechnology , gene , endocrinology , growth hormone deficiency , hormone receptor , hormone , growth hormone , cancer , breast cancer

Mutations in the GH-releasing hormone (GHRH) receptor (GHRHR) gene (GHRHR) cause autosomal recessive familial isolated GH deficiency (IGHD). We searched for GHRHR mutations in two siblings with IGHD type IB and a history of parental consanguinity.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research