Primary Growth Hormone (GH) Insensitivity and Insulin-Like Growth Factor Deficiency Caused by Novel Compound Heterozygous Mutations of the GH Receptor Gene: Genetic and Functional Studies of Simple and Compound Heterozygous States | Zendy

Fang Peng | Zendy; Stefan Riedl | Zendy; Serge Amselem | Zendy; Katherine L. Pratt | Zendy; Brian M. Little | Zendy; G. Haeusler | Zendy; Vivian Hwa | Zendy; H Frisch | Zendy; Ron G. Rosenfeld | Zendy

Open Access

Primary Growth Hormone (GH) Insensitivity and Insulin-Like Growth Factor Deficiency Caused by Novel Compound Heterozygous Mutations of the GH Receptor Gene: Genetic and Functional Studies of Simple and Compound Heterozygous States

Author(s) -

Fang Peng,

Stefan Riedl,

Serge Amselem,

Katherine L. Pratt,

Brian M. Little,

G. Haeusler,

Vivian Hwa,

H Frisch,

Ron G. Rosenfeld

Publication year - 2007

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-2624

Subject(s) - heterozygote advantage , compound heterozygosity , growth hormone receptor , endocrinology , medicine , missense mutation , growth hormone binding protein , biology , dwarfism , receptor , mutation , gene , mutant , genetics , allele , hormone , growth hormone

Primary GH insensitivity (GHI) or Laron syndrome, caused by mutations of the GH receptor (GHR) gene, has a clinical phenotype of postnatal growth failure associated with normal elevated serum concentrations of GH and low serum levels of IGF-I.

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