Neonatal presentation of COG6‐CDG with prominent skin phenotype

Many of the genetic childhood disorders leading to death in the perinatal period follow autosomal recessive inheritance and bear specific challenges for genetic counseling and prenatal diagnostics. Often, affected children die before a genetic diagnosis can be established, thereby precluding targete...

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Detalles Bibliográficos
Autores principales: Komlosi, Katalin, Gläser, Selina, Kopp, Julia, Hotz, Alrun, Alter, Svenja, Zimmer, Andreas D., Beger, Carmela, Heinzel, Stefan, Schmidt, Christoph, Fischer, Judith
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463048/
https://www.ncbi.nlm.nih.gov/pubmed/32905044
http://dx.doi.org/10.1002/jmd2.12154

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7463048/
https://www.ncbi.nlm.nih.gov/pubmed/32905044
http://dx.doi.org/10.1002/jmd2.12154

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