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Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.
Ullah, Irfan; Kakar, Naseebullah; Schrauwen, Isabelle; Hussain, Shabir; Chakchouk, Imen; Liaqat, Khurram; Acharya, Anushree; Wasif, Naveed; Santos-Cortez, Regie Lyn P; Khan, Saadullah; Aziz, Abdul; Lee, Kwanghyuk; Couthouis, Julien; Horn, Denise; Kragesteen, Bjørt K; Spielmann, Malte; Thiele, Holger; Nickerson, Deborah A; Bamshad, Michael J; Gitler, Aaron D; Ahmad, Jamil; Ansar, Muhammad; Borck, Guntram; Ahmad, Wasim; Leal, Suzanne M.
Afiliación
  • Ullah I; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Kakar N; Institute of Human Genetics, University of Ulm, Ulm, Germany.
  • Schrauwen I; Department of Biotechnology, Balochistan University of Information Technology, Engineering, and Management Sciences, Quetta, Pakistan.
  • Hussain S; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, 1 Baylor Plaza 700D, Houston, TX, 77030, USA.
  • Chakchouk I; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Liaqat K; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, 1 Baylor Plaza 700D, Houston, TX, 77030, USA.
  • Acharya A; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, 1 Baylor Plaza 700D, Houston, TX, 77030, USA.
  • Wasif N; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, 1 Baylor Plaza 700D, Houston, TX, 77030, USA.
  • Santos-Cortez RLP; Department of Biotechnology, Faculty of Biological Sciences, Quaid-i-Azam University Islamabad, Islamabad, Pakistan.
  • Khan S; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, 1 Baylor Plaza 700D, Houston, TX, 77030, USA.
  • Aziz A; Institute of Human Genetics, University of Ulm, Ulm, Germany.
  • Lee K; Institute of Molecular Biology and Biotechnology (IMBB), The University of Lahore, Lahore, Pakistan.
  • Couthouis J; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, 1 Baylor Plaza 700D, Houston, TX, 77030, USA.
  • Horn D; Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Pakistan.
  • Kragesteen BK; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Spielmann M; Department of Computer Science and Bioinformatics, Khushal Khan Khattak University, Karak, Pakistan.
  • Thiele H; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, 1 Baylor Plaza 700D, Houston, TX, 77030, USA.
  • Nickerson DA; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
  • Bamshad MJ; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Gitler AD; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Ahmad J; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
  • Ansar M; Cologne Center for Genomics (CCG), Universitat zu Koln, Cologne, Germany.
  • Borck G; Department of Genome Sciences, University of Washington, Seattle, USA.
  • Ahmad W; Department of Genome Sciences, University of Washington, Seattle, USA.
  • Leal SM; Department of Pediatrics, University of Washington, Seattle, WA, USA.
Hum Genet ; 138(6): 593-600, 2019 Jun.
Article en En | MEDLINE | ID: mdl-30982135

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Dedos del Pie / Polidactilia / Predisposición Genética a la Enfermedad / Péptidos y Proteínas de Señalización Intracelular / Dedos / Genes Recesivos / Mutación Límite: Animals / Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Alemania

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Dedos del Pie / Polidactilia / Predisposición Genética a la Enfermedad / Péptidos y Proteínas de Señalización Intracelular / Dedos / Genes Recesivos / Mutación Límite: Animals / Female / Humans / Male Idioma: En Revista: Hum Genet Año: 2019 Tipo del documento: Article País de afiliación: Pakistán Pais de publicación: Alemania