Neonatal presentation of COG6‐CDG with prominent skin phenotype

Abstract 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 precludin...

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Bibliographic Details
Published in:JIMD Reports
Main Authors: Katalin Komlosi, Selina Gläser, Julia Kopp, Alrun Hotz, Svenja Alter, Andreas D. Zimmer, Carmela Beger, Stefan Heinzel, Christoph Schmidt, Judith Fischer
Format: Article
Language:English
Published: Wiley 2020-09-01
Subjects:
CDG
COG6
genodermatoses
restrictive dermopathy
WES
Online Access:https://doi.org/10.1002/jmd2.12154

Internet

https://doi.org/10.1002/jmd2.12154

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