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A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum.
Al Shibli, Naema; Al-Maawali, Almundher; Elmanzalawy, Alaa; Al-Nabhani, Maryam; Koul, Roshan; Gabr, Ahlam; Al Murshedi, Fathiya.
Affiliation
  • Al Shibli N; Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
  • Al-Maawali A; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.
  • Elmanzalawy A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
  • Al-Nabhani M; Department of Radiology and Molecular Imaging, Sultan Qaboos University Hospital, Muscat, Oman.
  • Koul R; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
  • Gabr A; Department of Neurology, Institute of Liver and Biliary Sciences, Vasant Kunj, New Delhi, India.
  • Al Murshedi F; Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
J Pediatr Genet ; 9(4): 293-295, 2020 Dec.
Article in En | MEDLINE | ID: mdl-32765936
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Full text: 1 Database: MEDLINE Type of study: Etiology_studies Language: En Journal: J Pediatr Genet Year: 2020 Type: Article Affiliation country: Oman
Fulltext
Add to My VHL
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Full text: 1 Database: MEDLINE Type of study: Etiology_studies Language: En Journal: J Pediatr Genet Year: 2020 Type: Article Affiliation country: Oman