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

J Dermatol. 2015 Aug;42(8):821-2. doi: 10.1111/1346-8138.12917. Epub 2015 May 11.

Authors

Salma Ben-Salem¹, Sobreira Nara², Aisha M Al-Shamsi³, David Valle², Bassam R Ali¹, Lihadh Al-Gazali⁴

Affiliations

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.

No abstract available

Publication types

Case Reports
Letter
Research Support, N.I.H., Extramural

MeSH terms

Arabs / genetics
Female
Founder Effect*
Humans
Infant, Newborn
Keratoderma, Palmoplantar / genetics*
Neurocutaneous Syndromes / genetics*
Qb-SNARE Proteins / genetics*
Qc-SNARE Proteins / genetics*

Substances

Qb-SNARE Proteins
Qc-SNARE Proteins
SNAP29 protein, human

Supplementary concepts

Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome

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