New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra

OBJECTIVE: To report 6 new patients with cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK) syndrome. METHODS: Clinical exome or targeted sequencing were performed to elucidate the molecular genetic cause in patients with neurocognitive abnormalities and brain imaging findings. RE...

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Detalles Bibliográficos
Autores principales: Mah-Som, Annelise Y., Skrypnyk, Cristina, Guerin, Andrea, Seroor Jadah, Raafat Hammad, Vardhan, Vinayak Nivrutti, McKinstry, Robert C., Shinawi, Marwan S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105887/
https://www.ncbi.nlm.nih.gov/pubmed/33977139
http://dx.doi.org/10.1212/NXG.0000000000000553

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105887/
https://www.ncbi.nlm.nih.gov/pubmed/33977139
http://dx.doi.org/10.1212/NXG.0000000000000553

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