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Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
Chaudhary, Ajay Kumar; Gholse, Aishwarya; Nagarajaram, Hampapathalu Adimurthy; Dalal, Ashwin Bhikaji; Gupta, Neerja; Dutta, Atanu Kumar; Danda, Sumita; Gupta, Rekha; Sankar, Hariharan V; Bhavani, Gandham SriLakshmi; Girisha, Katta M; Phadke, Shubha Rao; Ranganath, Prajnya; Bashyam, Murali Dharan.
Afiliação
  • Chaudhary AK; Laboratory of Molecular Oncology, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Gholse A; Laboratory of Computational Biology, Department of Systems and Computational Biology, School of Life Sciences, University of Hyderabad, Hyderabad, India.
  • Nagarajaram HA; Laboratory of Computational Biology, Department of Systems and Computational Biology, School of Life Sciences, University of Hyderabad, Hyderabad, India.
  • Dalal AB; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Dutta AK; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India.
  • Danda S; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, India.
  • Gupta R; Department of Medical Genetics, Mahatma Gandhi Medical College and Hospital, Jaipur, India.
  • Sankar HV; Department of Pediatrics, SAT Hospital, Medical College, Trivandrum, India.
  • Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
  • Ranganath P; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
  • Bashyam MD; Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
Am J Med Genet A ; 188(3): 788-805, 2022 03.
Article em En | MEDLINE | ID: mdl-34863015
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Deformidades Congênitas dos Membros / Displasia Ectodérmica Anidrótica Tipo 1 / Displasia Ectodérmica Hipo-Hidrótica Autossômica Recessiva Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Índia
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Deformidades Congênitas dos Membros / Displasia Ectodérmica Anidrótica Tipo 1 / Displasia Ectodérmica Hipo-Hidrótica Autossômica Recessiva Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Índia