Severe Short Stature Caused by Novel Compound Heterozygous Mutations of the Insulin-Like Growth Factor 1 Receptor (IGF1R) | Zendy

Fang Peng | Zendy; Yoon Hi Cho | Zendy; Michael A. Derr | Zendy; Ron G. Rosenfeld | Zendy; Vivian Hwa | Zendy; Christopher T. Cowell | Zendy

Open Access

Severe Short Stature Caused by Novel Compound Heterozygous Mutations of the Insulin-Like Growth Factor 1 Receptor (IGF1R)

Author(s) -

Fang Peng,

Yoon Hi Cho,

Michael A. Derr,

Ron G. Rosenfeld,

Vivian Hwa,

Christopher T. Cowell

Publication year - 2011

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2011-2142

Subject(s) - insulin like growth factor 1 receptor , short stature , dwarfism , endocrinology , medicine , exon , compound heterozygosity , insulin like growth factor , missense mutation , mutation , biology , receptor , genetics , growth factor , gene

IGF-I, essential for normal human growth in utero and postnatally, mediates its effects through the IGF-I receptor (IGF1R). More than nine heterozygous mutations, including one compound heterozygous mutation, of the IGF1R gene have been reported in patients with varying degrees of intrauterine and postnatal growth retardation.

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