Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report

Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report

The palmitoylation of the Hedgehog (Hh) family of morphogens, named sonic hedgehog (SHH), desert hedgehog (DHH), and Indian hedgehog (IHH), is crucial for effective short- and long-range signaling. The hedgehog acyltransferase (HHAT) attaches the palmitate molecule to the Hh; therefore, variants in...

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Bibliographic Details
Main Authors: Noelia Baz-Redón, Laura Soler-Colomer, Mónica Fernández-Cancio, Sara Benito-Sanz, Marta Garrido, Teresa Moliné, María Clemente, Núria Camats-Tarruella, Diego Yeste
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Endocrinology
Subjects:
46,XY different sexual development
syndromic DSD
HHAT
minigene studies
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.957969/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2022.957969/full

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