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

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 gr...

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Detalles Bibliográficos
Autores principales: Shabbir, Rana Muhammad Kamran, Nalbant, Gökhan, Zaman, Qamar, Tolun, Aslıhan, Malik, Sajid, Mumtaz, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: YJBM 2023
Materias:
Original Contribution
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10524814/
https://www.ncbi.nlm.nih.gov/pubmed/37780997
http://dx.doi.org/10.59249/TCAA2040

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10524814/
https://www.ncbi.nlm.nih.gov/pubmed/37780997
http://dx.doi.org/10.59249/TCAA2040

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