title: New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.
authors.affiliation: Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
authors.forename: Salma
authors.initials: S
authors.lastname: Ben-Salem
authors.affiliation: Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Sobreira
authors.initials: S
authors.lastname: Nara
authors.affiliation: Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.
authors.forename: Aisha M
authors.initials: AM
authors.lastname: Al-Shamsi
authors.affiliation: Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: David
authors.initials: D
authors.lastname: Valle
authors.affiliation: Department of Pathology, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
authors.forename: Bassam R
authors.initials: BR
authors.lastname: Ali
authors.affiliation: Department of Pediatrics, College of Medicine and Heath Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
authors.forename: Lihadh
authors.initials: L
authors.lastname: Al-Gazali
mesh_terms: D018912:Arabs / Q000235:genetics; D005260:Female; D018703:Founder Effect; D006801:Humans; D007231:Infant, Newborn; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D020752:Neurocutaneous Syndromes / Q000235:genetics*; D050766:Qb-SNARE Proteins / Q000235:genetics*; D050767:Qc-SNARE Proteins / Q000235:genetics*
chemical_list: D050766:Qb-SNARE Proteins; D050767:Qc-SNARE Proteins; C432420:SNAP29 protein, human