Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene

Growth disorders resulting in extreme short stature (ESS) are often a result of deficiency in growth hormone (GH) released from the pituitary gland or a defective GH releasing receptor. Genetic defects in the GH1 and GHRHR genes account for around 11.1-20% of ESS cases, resulting in a rare condition...

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Bibliographic Details
Main Authors: Basma Haris, Idris Mohammed, Umm Kulthum Umlai, Diksha Shirodkar, Khalid Hussain
Format: Article
Language:English
Published: Galenos Yayincilik 2024-06-01
Series:JCRPE
Subjects:
Online Access:https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-77699&look4=