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A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.
Bastaki, Fatma; Mohamed, Madiha; Nair, Pratibha; Saif, Fatima; Tawfiq, Nafisa; Al-Ali, Mahmoud Taleb; Brandau, Oliver; Hamzeh, Abdul Rezzak.
Affiliation
  • Bastaki F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
  • Mohamed M; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
  • Nair P; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
  • Saif F; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
  • Tawfiq N; Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates.
  • Al-Ali MT; Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
  • Brandau O; Centogene AG, Schillingallee 68, Rostock 18057, Germany.
  • Hamzeh AR; Centre for Arab Genomic Studies, Dubai, United Arab Emirates. Electronic address: Abdul.hamzeh@hmaward.org.ae.
Mol Cell Probes ; 30(1): 18-21, 2016 Feb.
Article in En | MEDLINE | ID: mdl-26631803
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Telangiectasis / DNA Mutational Analysis / SOXF Transcription Factors / Exome / Hypotrichosis / Lymphedema / Mutation Limits: Humans / Male / Newborn Country/Region as subject: Asia Language: En Journal: Mol Cell Probes Journal subject: BIOLOGIA MOLECULAR / BIOTECNOLOGIA Year: 2016 Type: Article Affiliation country: United Arab Emirates
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Telangiectasis / DNA Mutational Analysis / SOXF Transcription Factors / Exome / Hypotrichosis / Lymphedema / Mutation Limits: Humans / Male / Newborn Country/Region as subject: Asia Language: En Journal: Mol Cell Probes Journal subject: BIOLOGIA MOLECULAR / BIOTECNOLOGIA Year: 2016 Type: Article Affiliation country: United Arab Emirates