PLACK syndrome resulting from a new homozygous insertion mutation in CAST

Azzam Alkhalifah; Christine Chiaverini; Pascal Del Giudice; Chavalit Supsrisunjai; Chao-Kai Hsu; Lu Liu; Alexandra Charlesworth; John A McGrath; Jean-Philippe Lacour

doi:10.1016/j.jdermsci.2017.06.004

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PLACK syndrome resulting from a new homozygous insertion mutation in CAST

Journal article

Open access

Peer reviewed

PLACK syndrome resulting from a new homozygous insertion mutation in CAST

Azzam Alkhalifah, Christine Chiaverini, Pascal Del Giudice, Chavalit Supsrisunjai, Chao-Kai Hsu, Lu Liu, Alexandra Charlesworth, John A McGrath and Jean-Philippe Lacour

Journal of dermatological science, Vol.88(2), pp.256-258

01/11/2017

DOI: https://doi.org/10.1016/j.jdermsci.2017.06.004

PMID: 28851602

Abstract

Calcium-Binding Proteins - genetics

Cheilitis - genetics

Child

Consanguinity

Dermatitis, Exfoliative - genetics

Homozygote

Humans

Hypopigmentation - genetics

Keratosis - genetics

Male

Mutation

Nail Diseases - congenital

Nail Diseases - genetics

Skin Diseases, Genetic - genetics

Syndrome

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Details

Title: PLACK syndrome resulting from a new homozygous insertion mutation in CAST
Creators - without role: Azzam Alkhalifah - Qassim University
Christine Chiaverini - Université Côte d'Azur
Pascal Del Giudice - Centre Hospitalier Intercommunal de Fréjus Saint-Raphaël
Chavalit Supsrisunjai - King's College London
Chao-Kai Hsu - King's College London
Lu Liu - St Thomas' Hospital
Alexandra Charlesworth - Université Côte d'Azur
John A McGrath - King's College London
Jean-Philippe Lacour - Université Côte d'Azur
Publication Details: Journal of dermatological science, Vol.88(2), pp.256-258
Identifiers: 9928301808331
Academic Unit: Qassim University
Language: English
Resource Type: Journal article