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Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
Muggenthaler, Martina M A; Chowdhury, Biswajit; Hasan, S Naimul; Cross, Harold E; Mark, Brian; Harlalka, Gaurav V; Patton, Michael A; Ishida, Miho; Behr, Elijah R; Sharma, Sanjay; Zahka, Kenneth; Faqeih, Eissa; Blakley, Brian; Jackson, Mike; Lees, Melissa; Dolinsky, Vernon; Cross, Leroy; Stanier, Philip; Salter, Claire; Baple, Emma L; Alkuraya, Fowzan S; Crosby, Andrew H; Triggs-Raine, Barbara; Chioza, Barry A.
Afiliación
  • Muggenthaler MM; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom.
  • Chowdhury B; Department of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Hasan SN; Department of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Cross HE; Department of Ophthalmology, University of Arizona College of Medicine, Tucson, Arizona, United States of America.
  • Mark B; Department of Microbiology, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Harlalka GV; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom.
  • Patton MA; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom.
  • Ishida M; Genetics Research Centre, St George's University London, London, United Kingdom.
  • Behr ER; Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom.
  • Sharma S; Cardiovascular Sciences Research Centre, St George's University of London, London, United Kingdom.
  • Zahka K; Cardiovascular Sciences Research Centre, St George's University of London, London, United Kingdom.
  • Faqeih E; Pediatric Cardiology, Cleveland Clinic, Cleveland, Ohio, United States of America.
  • Blakley B; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
  • Jackson M; Department of Otolaryngology, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Lees M; Department of Small Animal and Materials Imaging Facility, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Dolinsky V; Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom.
  • Cross L; Pharmacology & Therapeutics, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Stanier P; Pediatrics & Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.
  • Salter C; Windows of Hope Genetic Information Centre, Holmes County, Ohio, United States of America.
  • Baple EL; Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom.
  • Alkuraya FS; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.
  • Crosby AH; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom.
  • Triggs-Raine B; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
  • Chioza BA; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
PLoS Genet ; 13(1): e1006470, 2017 Jan.
Article en En | MEDLINE | ID: mdl-28081210
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Corazón Triatrial / Moléculas de Adhesión Celular / Labio Leporino / Fisura del Paladar / Hialuronoglucosaminidasa / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Corazón Triatrial / Moléculas de Adhesión Celular / Labio Leporino / Fisura del Paladar / Hialuronoglucosaminidasa / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS Genet Asunto de la revista: GENETICA Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido