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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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Komlosi, Katalin, Gläser, Selina, Kopp, Julia, Hotz, Alrun, Alter, Svenja, Zimmer, Andreas D., Beger, Carmela, Heinzel, Stefan, Schmidt, Christoph, Fischer, Judith
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2020
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7463048/
https://ncbi.nlm.nih.gov/pubmed/32905044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12154
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