Severe Phenotype in Patients with X-linked Hydrocephalus Caused by a Missense Mutation in L1CAM

OBJECTIVE: The study aimed to show the clinical characteristics and prognosis of the L1 syndrome in patients with L1CAM mutations in the extracellular region. MATERIALS AND METHODS: Three affected boys and their siblings and parents from a large family were included in this study. Genetic etiology w...

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Detalles Bibliográficos
Autores principales: Tüysüz, Beyhan, Gülhan Ercan-Sençicek, Adife, Özer, Emre, Göç, Nükte, Yalçınkaya, Cengiz, Bilguvar, Kaya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Turkish Pediatrics Association 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524456/
https://www.ncbi.nlm.nih.gov/pubmed/35950747
http://dx.doi.org/10.5152/TurkArchPediatr.2022.22070

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524456/
https://www.ncbi.nlm.nih.gov/pubmed/35950747
http://dx.doi.org/10.5152/TurkArchPediatr.2022.22070

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