(PDF) Autosomal Recessive Congenital Ichthyosis: CERS3

Autosomal Recessive Congenital Ichthyosis: CERS3 Mutations Identified by a Next Generation Sequencing Panel Targeting Ichthyosis Genes

European Journal of Human Genetics - United Kingdom

doi 10.1038/ejhg.2017.137

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Date

September 6, 2017

Authors

Leila Youssefian

Hassan Vahidnezhad

Amir Hossein Saeidian

Publisher

Springer Science and Business Media LLC

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Autosomal Recessive Congenital Ichthyosis: CERS3 Mutations Identified by a Next Generation Sequencing Panel Targeting Ichthyosis Genes

European Journal of Human Genetics - United Kingdom

doi 10.1038/ejhg.2017.137

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis

Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

Comparing Histopathology From Patients With X-Linked Recessive Ichthyosis and Autosomal Recessive Congenital Ichthyosis With Transglutaminase 1 Mutation: A Report From the National Registry for Ichthyosis and Related Skin Disorders

NIPAL4 Deletion Identified in an American Bully With Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy

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