PLACK syndrome shows remarkable phenotypic homogeneity-Reference-Cited by-同舟云学术

PLACK syndrome shows remarkable phenotypic homogeneity

Published:2019-01-17 Issue:5 Volume:44 Page:580-583
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Mohamad J.¹²,Samuelov L.¹^ORCID,Ben‐Amitai D.³,Malchin N.¹,Sarig O.¹,Sprecher E.¹²^ORCID

Affiliation:

1. Department of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel

2. Department of Human Molecular Genetics & Biochemistry Sackler Faculty of Medicine Tel Aviv University Ramat Aviv Israel

3. Pediatric Dermatology Unit Schneider Children's Medical Center of Israel Petach Tikva Israel

Funder

Ram Family

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ced.13887

Reference6 articles.

1. Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A

2. SamuelovL SprecherE.Peeling skin syndrome.UpToDate2017. Available at:https://www.uptodate.com/contents/peeling-skin-syndrome# (accessed 20 November 2018).

3. PLACK syndrome resulting from a new homozygous insertion mutation in CAST

4. Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads

5. Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis

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1. Novel nonsense CAST mutation in two siblings with PLACK syndrome;International Journal of Dermatology;2023-06-30

2. A patient with PLACK syndrome with a novel splicing mutation in CAST: the evidence for a loss-of-function mechanism through mis-splicing;Clinical and Experimental Dermatology;2023-05-23

3. PLACK syndrome caused by novel pathogenic variants in CAST: a case report and literature review;Clinical and Experimental Dermatology;2023-05-04

4. PLACK syndrome associated with alopecia areata and a novel homozygous base pair insertion in exon 18 of CAST gene;Indian Journal of Dermatology, Venereology and Leprology;2023-05-03

5. PLACK syndrome is potentially treatable with intralipids;Clinical Genetics;2021-01-20