Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis

Neonatal collodion baby or ichthyosis can pose a diagnostic challenge, and in many cases, only additional organ involvement or the course of the disease will help differentiate between non-syndromic and syndromic forms. Skin abnormalities are described in about 20% of the congenital disorders of gly...

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Detalles Bibliográficos
Autores principales: Komlosi, Katalin, Claris, Olivier, Collardeau-Frachon, Sophie, Kopp, Julia, Hausser, Ingrid, Mazereeuw-Hautier, Juliette, Jonca, Nathalie, Zimmer, Andreas D., Sanlaville, Damien, Fischer, Judith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8693085/
https://www.ncbi.nlm.nih.gov/pubmed/34956305
http://dx.doi.org/10.3389/fgene.2021.719624

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8693085/
https://www.ncbi.nlm.nih.gov/pubmed/34956305
http://dx.doi.org/10.3389/fgene.2021.719624

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