Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report

Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report

Wieacker-Wolff syndrome (WWS) is an X-linked Arthrogryposis Multiplex Congenita (AMC) disorder associated with broad neurodevelopmental impairment. The genetic basis of WWS lies in hemizygous pathogenic variants in ZC4H2, encoding a C4H2 type zinc-finger nuclear factor abundantly expressed in the de...

Full description

Bibliographic Details
Main Authors: Gianluca Piccolo, Giuseppe d'Annunzio, Elisabetta Amadori, Antonella Riva, Paola Borgia, Domenico Tortora, Mohamad Maghnie, Carlo Minetti, Eloisa Gitto, Michele Iacomino, Simona Baldassari, Chiara Fiorillo, Federico Zara, Pasquale Striano, Vincenzo Salpietro
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Neurology
Subjects:
arthrogryposis
ZC4H2
neurodevelopmental disorders
Wieacker-Wolff syndrome
exome sequencing
recurrent hypoglycemic events
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.704747/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2021.704747/full

Similar Items