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