Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review

Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the <i>GLDN</i> gene on chromosome 15q21. <i>GLDN</i> encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human p...

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Bibliographic Details
Main Authors: Miriam Potrony, Antoni Borrell, Narcís Masoller, Alfons Nadal, Leonardo Rodriguez-Carunchio, Karmele Saez de Gordoa Elizalde, Juan Francisco Quesada-Espinosa, Jose Luis Villanueva-Cañas, Montse Pauta, Meritxell Jodar, Irene Madrigal, Celia Badenas, Maria Isabel Alvarez-Mora, Laia Rodriguez-Revenga
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:Journal of Clinical Medicine
Subjects:
<i>GLDN</i>
arthrogryposis multiplex congenita
fetal akinesia deformation sequence
Online Access:https://www.mdpi.com/2077-0383/11/13/3570

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https://www.mdpi.com/2077-0383/11/13/3570

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