Identification of a Novel Nonsense Mutation in the <i>IGSF1</i> Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family

<b>Background</b>: The immunoglobulin superfamily member 1 (<i>IGSF1</i>) gene encodes for a transmembrane glycoprotein involved in crucial processes such as growth, metabolism, and reproductive function. Loss-of-Function (LOF) mutations in the <i>IGSF1</i> gene have been reported to cause the X-lin...

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Principais autores:	Rosario Ruta, Nicoletta Massaccesi, Mafalda Mucciolo, Alessandro Sparaci, Enrica Fabbrizi, Antonio Novelli
Format:	Artigo
Jezik:	Inglês
Izdano:	MDPI AG 2025-12-01
Serija:	Children
Teme:	<i>IGSF1</i> IGSF1-deficiency syndrome short stature growth hormone deficiency
Online dostop:	https://www.mdpi.com/2227-9067/12/12/1682
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