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2 articles related to "Collodion Baby"

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Articles

Case Report

Published on 21 Feb 2019

Exome Analysis Identifies a Novel Compound Heterozygous Alteration in TGM1 Gene Leading to Lamellar Ichthyosis in a Child From Saudi Arabia: Case Presentation

in Genetics of Common and Rare Diseases

Sami Raja Alallasi
Amal A. Kokandi
Babajan Banagnapali
Noor Ahmad Shaik
Bandar Ali Al-Shehri
Nuha Mohammad Alrayes
Jumana Yousuf Al-Aama
Musharraf Jelani

Frontiers in Pediatrics

doi 10.3389/fped.2019.00044

5,400 views
9 citations

Original Research

Published on 08 Dec 2021

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

in Genetics of Common and Rare Diseases

Katalin Komlosi
Olivier Claris
Sophie Collardeau-Frachon
Julia Kopp
Ingrid Hausser
Juliette Mazereeuw-Hautier
Nathalie Jonca
Andreas D. Zimmer
Damien Sanlaville
Judith Fischer

Frontiers in Genetics

doi 10.3389/fgene.2021.719624

4,595 views
8 citations