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Novel biallelic variants expand the SLC5A6-related phenotypic spectrum.
Holling, Tess; Nampoothiri, Sheela; Tarhan, Bedirhan; Schneeberger, Pauline E; Vinayan, Kollencheri Puthenveettil; Yesodharan, Dhanya; Roy, Arun Grace; Radhakrishnan, Periyasamy; Alawi, Malik; Rhodes, Lindsay; Girisha, Katta Mohan; Kang, Peter B; Kutsche, Kerstin.
Afiliación
  • Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, 682041, Kerala, India.
  • Tarhan B; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, 32610, USA.
  • Schneeberger PE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Vinayan KP; Amedes MVZ Wagnerstibbe für Laboratoriumsmedizin, Hämostaseologie, Humangenetik und Mikrobiologie Hannover, 30159, Hannover, Germany.
  • Yesodharan D; Department of Pediatric Neurology, Amrita Institute of Medical Sciences & Research Centre, Cochin, 682041, Kerala, India.
  • Roy AG; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, 682041, Kerala, India.
  • Radhakrishnan P; Department of Neurology, Amrita Institute of Medical Sciences & Research Centre, Cochin, 682041, Kerala, India.
  • Alawi M; Suma Genomics Pvt. Ltd, Manipal Universal Technology Business Incubator (MUTBI), Manipal, 576104, India.
  • Rhodes L; Bioinformatics Core, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.
  • Girisha KM; GeneDx, Gaithersburg, MD, 20877, USA.
  • Kang PB; Department of Medical Genetics, Kasturba Medical College, Manipal, 576104, India.
  • Kutsche K; Division of Pediatric Neurology, Department of Pediatrics, University of Florida College of Medicine, Gainesville, FL, 32610, USA. pkang@umn.edu.
Eur J Hum Genet ; 30(4): 439-449, 2022 04.
Article en En | MEDLINE | ID: mdl-35013551
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Ácido Pantoténico / Sodio / Simportadores Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Ácido Pantoténico / Sodio / Simportadores Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Alemania