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Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
Vona, B; Schwartzbaum, D A; Rodriguez, A A; Lewis, S S; Toosi, M B; Radhakrishnan, P; Bozan, N; Akin, R; Doosti, M; Manju, R; Duman, D; Sineni, C J; Nampoothiri, S; Karimiani, E G; Houlden, H; Bademci, G; Tekin, M; Girisha, K M; Maroofian, R; Douzgou, S.
Affiliation
  • Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Schwartzbaum DA; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.
  • Rodriguez AA; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Lewis SS; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Toosi MB; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Radhakrishnan P; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Bozan N; Suma Genomics Private Limited and Manipal Center for Biotherapeutics Research, Manipal Academy of Higher Education, Manipal, India.
  • Akin R; Department of Otolaryngology, Yuzuncu Yil University Faculty of Medicine, Van, Turkey.
  • Doosti M; Department of Otolaryngology, Yuzuncu Yil University Faculty of Medicine, Van, Turkey.
  • Manju R; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
  • Duman D; Renai Medicity, Cochin, Kerala, India.
  • Sineni CJ; Department of Audiology, Ankara University Faculty of Health Sciences, Ankara, Turkey.
  • Nampoothiri S; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Karimiani EG; Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kochi, India.
  • Houlden H; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
  • Bademci G; Molecular and Clinical Sciences Institute, St. George's, University of London, London, UK.
  • Tekin M; Innovative medical research center, Mashhad branch, Islamic Azad University, Mashhad, Iran.
  • Girisha KM; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
  • Maroofian R; John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
  • Douzgou S; Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
J Eur Acad Dermatol Venereol ; 36(9): 1606-1611, 2022 Sep.
Article in En | MEDLINE | ID: mdl-35543077
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Piebaldism / Hypopigmentation / Hyperpigmentation / Hearing Loss, Sensorineural Limits: Humans Language: En Journal: J Eur Acad Dermatol Venereol Journal subject: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Year: 2022 Type: Article Affiliation country: Germany
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Piebaldism / Hypopigmentation / Hyperpigmentation / Hearing Loss, Sensorineural Limits: Humans Language: En Journal: J Eur Acad Dermatol Venereol Journal subject: DERMATOLOGIA / DOENCAS SEXUALMENTE TRANSMISSIVEIS Year: 2022 Type: Article Affiliation country: Germany