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...

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Publicado en:Front Neurol
Autores principales: Piccolo, Gianluca, d'Annunzio, Giuseppe, Amadori, Elisabetta, Riva, Antonella, Borgia, Paola, Tortora, Domenico, Maghnie, Mohamad, Minetti, Carlo, Gitto, Eloisa, Iacomino, Michele, Baldassari, Simona, Fiorillo, Chiara, Zara, Federico, Striano, Pasquale, Salpietro, Vincenzo
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC8313121/
https://ncbi.nlm.nih.gov/pubmed/34322088
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2021.704747
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