A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: A novel missense mutation in the initiation codon and a 7.6kb deletion-Reference-Cited by-同舟云学术

A case with isolated growth hormone deficiency caused by compound heterozygous mutations in GH-1: A novel missense mutation in the initiation codon and a 7.6kb deletion

Published:2007-06 Issue:3 Volume:17 Page:249-253
ISSN:1096-6374
Container-title:Growth Hormone & IGF Research
language:en
Short-container-title:Growth Hormone & IGF Research

Author:

Hayashi Yoshitaka,Kamijo Takashi,Yamamoto Michiyo,Murata Yoshiharu,Phillips John A.,Ogawa Masamichi,Seo Hisao

Publisher

Elsevier BV

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference21 articles.

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2. Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency;Wagner;Pediatr. Res.,1998

3. Familial isolated growth hormone deficiency: genetics and pathophysiology;Hayashi;Endocr. J.,2002

4. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse;Wajnrajch;Nat. Genet.,1996

5. Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB;Salvatori;J. Clin. Endocrinol. Metab.,2001

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