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A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
Hamzeh, Abdul Rezzak; Saif, Fatima; Nair, Pratibha; Binjab, Asma Jassim; Mohamed, Madiha; Al-Ali, Mahmoud Taleb; Bastaki, Fatma.
Affiliation
  • Hamzeh AR; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates. abdul.hamzeh@hmaward.org.ae.
  • Saif F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
  • Nair P; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
  • Binjab AJ; Pediatrics and Neonatology Department, Dubai Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
  • Mohamed M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
  • Al-Ali MT; Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.
  • Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
BMC Pediatr ; 17(1): 31, 2017 01 19.
Article in En | MEDLINE | ID: mdl-28103835
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hand Deformities, Congenital / Base Sequence / Frameshift Mutation / Sequence Deletion / Guanine Nucleotide Exchange Factors / Genetic Diseases, X-Linked / Dwarfism / Face / Genitalia, Male / Heart Defects, Congenital Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Pediatr Journal subject: PEDIATRIA Year: 2017 Document type: Article Affiliation country: United Arab Emirates Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hand Deformities, Congenital / Base Sequence / Frameshift Mutation / Sequence Deletion / Guanine Nucleotide Exchange Factors / Genetic Diseases, X-Linked / Dwarfism / Face / Genitalia, Male / Heart Defects, Congenital Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Humans / Male Country/Region as subject: Asia Language: En Journal: BMC Pediatr Journal subject: PEDIATRIA Year: 2017 Document type: Article Affiliation country: United Arab Emirates Country of publication: United kingdom