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 GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report a...

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Detalles Bibliográficos
Autores principales: Potrony, Miriam, Borrell, Antoni, Masoller, Narcís, Nadal, Alfons, Rodriguez-Carunchio, Leonardo, Saez de Gordoa Elizalde, Karmele, Quesada-Espinosa, Juan Francisco, Villanueva-Cañas, Jose Luis, Pauta, Montse, Jodar, Meritxell, Madrigal, Irene, Badenas, Celia, Alvarez-Mora, Maria Isabel, Rodriguez-Revenga, Laia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9267849/
https://www.ncbi.nlm.nih.gov/pubmed/35806855
http://dx.doi.org/10.3390/jcm11133570

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9267849/
https://www.ncbi.nlm.nih.gov/pubmed/35806855
http://dx.doi.org/10.3390/jcm11133570

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