Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome

Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome

Pubertal delay can be due to hypogonadotropic hypogonadism (HH), which may occur in association with anosmia or hyposmia and is known as Kallmann syndrome (OMIM #308700). Recently, hypogonadotropic hypogonadism has been suggested to overlap with Witteveen–Kolk syndrome (WITKOS, OMIM #613406) associa...

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Bibliographic Details
Main Authors: Lourdes Correa Brito, Ana Keselman, Florencia Villegas, Paula Scaglia, María Esnaola Azcoiti, Sebastián Castro, Nora Sanguineti, Agustín Izquierdo, Marianela Maier, Ignacio Bergadá, Claudia Arberas, Rodolfo A. Rey, María Gabriela Ropelato
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-03-01
Series:Frontiers in Genetics
Subjects:
hypogonadotropic hypogonadism
Kallmann syndrome
SIN3A gene
Witteveen–Kolk syndrome
whole-exome sequencing
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1354715/full

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https://www.frontiersin.org/articles/10.3389/fgene.2024.1354715/full

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