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

TitleNew Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.
Publication TypeJournal Article
Year of Publication2015
AuthorsBen-Salem, S, Nara, S, Al-Shamsi, AM, Valle, D, Ali, BR, Al-Gazali, L
JournalJ Dermatol
Volume42
Issue8
Pagination821-2
Date Published2015 Aug
ISSN1346-8138
KeywordsArabs, Female, Founder Effect, Humans, Infant, Newborn, Keratoderma, Palmoplantar, Neurocutaneous Syndromes, Qb-SNARE Proteins, Qc-SNARE Proteins
DOI10.1111/1346-8138.12917
Alternate JournalJ. Dermatol.
PubMed ID25958742
PubMed Central IDPMC4704090
Grant ListU54 HG006542 / HG / NHGRI NIH HHS / United States
U54HG006542 / HG / NHGRI NIH HHS / United States