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Article

A Recurrent Mutation in Growth Hormone Receptor (GHR) Gene Underlying Laron-type Dwarfism in a Pakistani Family.

The Yale journal of biology and medicine - 1 Sept 2023

Shabbir Rana Muhammad Kamran, Nalbant Gökhan, Zaman Qamar, Tolun Aslıhan, Malik Sajid, Mumtaz Sara

Abstract excerpt

Laron syndrome (LS) is a rare autosomal recessively segregating disorder of severe short stature. The condition is characterized by short limbs, delayed puberty, hypoglycemia in infancy, and obesity. Mutations in growth hormone receptor (GHR) have been implicated in LS; hence, it is also known as growth hormone insensitivity syndrome (MIM-262500). Here we represent a consanguineous Pakistani family in which three...

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Mutation
Obesity
Pakistan
Puberty, Delayed
Receptors, Somatotropin

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PMID: 37780997
DOI: 10.59249/TCAA2040
PMCID: PMC10524814

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