CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene-Reference-Cited by-同舟云学术

CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene

Published:2019-02-22 Issue:3 Volume:36 Page:372-376
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Poojary Shital¹^ORCID,Shah Kapisha S.¹,Bhalala Krishna B.¹,Hegde Anaita Udwadia²

Affiliation:

1. Department of Dermatology, Venereology and LeprologyK. J. Somaiya Medical College Mumbai Maharashtra India

2. Jaslok Hospital and Research CenterBreach Candy Hospital TrustBai Jerbai Wadia Hospital for ChildrenSRCC Children's Hospital managed by Narayana Health Mumbai India

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.13761

Reference10 articles.

1. A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma

2. CEDNIK syndrome results from loss-of-function mutations in SNAP29

3. New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation

4. CEDNIK

5. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS

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1. CEDNIK Syndrome;Genetic Syndromes;2024

2. Keratoderma and ichthyosis as valuable features for the diagnosis of cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome;JAAD Case Reports;2023-09

3. Snapshots from within the cell: Novel trafficking and non trafficking functions of Snap29 during tissue morphogenesis;Seminars in Cell & Developmental Biology;2023-01

4. Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease;Current Pediatrics;2022-11-07

5. Nuclear and Cytoplasmatic Players in Mitochondria-Related CNS Disorders: Chromatin Modifications and Subcellular Trafficking;Biomolecules;2022-04-23