New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation-Reference-Cited by-同舟云学术

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

Published:2015-05-11 Issue:8 Volume:42 Page:821-822
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Ben-Salem Salma¹,Nara Sobreira²,Al-Shamsi Aisha M.³,Valle David²,Ali Bassam R.¹,Al-Gazali Lihadh⁴

Affiliation:

1. Department of Pathology; College of Medicine and Heath Sciences; United Arab Emirates University; Al-Ain United Arab Emirates

2. Institute of Genetic Medicine; Johns Hopkins University School of Medicine; Baltimore Maryland USA

3. Department of Pediatrics; Tawam Hospital; Al-Ain United Arab Emirates

4. Department of Pediatrics; College of Medicine and Heath Sciences; United Arab Emirates University; Al-Ain United Arab Emirates

Funder

College of Medicine and Health Sciences, United Arab Emirates University

National Human Genome Research Institute

United Arab Emirate University

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/1346-8138.12917/fullpdf

Reference3 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;Sprecher;Am J Hum Genet,2005

2. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS;McDonald-McGinn;J Med Genet,2013

3. CEDNIK syndrome results from loss-of-function mutations in SNAP29;Fuchs-Telem;Br J Dermatol,2011

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