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Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: Expression studies of SLC29A3 (hENT3) in human skin

Farooq M.; Moustafa R.M.; Fujimoto A.; Fujikawa H.; Abbas O.; Kibbi A.G.; Kurban M.; Shimomura Y. (BASEL, 2012)
A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family

Farooq M.; Kurban M.; Fujimoto A.; Fujikawa H.; Abbas O.; Nemer G.; Saliba J.; Sleiman R.; Tofaili M.; Kibbi A.-G.; Ito M.; Shimomura Y. (HOBOKEN, 2013)
A novel mutation in the PLCD1 gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia

Farooq M.; Kurban M.; Abbas O.; Obeidat O.; Fujikawa H.; Kibbi A.-G.; Fujimoto A.; Shimomura Y. (HOBOKEN, 2012)
A novel splice-site ECM1 gene mutation in a Lebanese girl with lipoid proteinosis

Abbas O.; Farooq M.; El Khoury J.; Kibbi A..-G.; Fujikawa H.; Fujimoto A.; Shimomura Y.; Kurban M. (HOBOKEN, 2013)
Netherton syndrome showing a large clinical overlap with generalized inflammatory peeling skin syndrome

Farooq M.; Kurban M.; Abbas O.; Kibbi A.-G.; Fujimoto A.; Fujikawa H.; Shimomura Y. (MONTROUGE, 2012)
GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63

Fujimoto A.; Kurban M.; Nakamura M.; Farooq M.; Fujikawa H.; Kibbi A.-G.; Ito M.; Dahdah M.; Matta M.; Diab H.; Shimomura Y. (CLARE, 2013)
Genetic analysis of epidermolysis bullosa: Identification of mutations in LAMB3 and COL7A1 genes in three families

Farooq M.; Kurban M.; Iguchi R.; Abbas O.; Fujimoto A.; Fujikawa H.; Bourji L.; Sleiman R.; Itani S.; Succariah F.; Kibbi A.G.; Shimomura Y. (CLARE, 2013)

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