Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report

Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies (CHIME) syndrome is a very rare autosomal recessive neuroectodermal disorder related to PIGL gene mutations. Here, we report a patient who showed an initial delay in psychomotor development and skin a...

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Detalles Bibliográficos
Autores principales: Rolland, Marion, Dubourg, Christèle, Cospain, Auriane, Droitcourt, Catherine, Pasquier, Laurent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10286643/
https://www.ncbi.nlm.nih.gov/pubmed/35258128
http://dx.doi.org/10.1111/pde.14969

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10286643/
https://www.ncbi.nlm.nih.gov/pubmed/35258128
http://dx.doi.org/10.1111/pde.14969

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