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The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function.
Girisha, Katta M; von Elsner, Leonie; Neethukrishna, Kausthubham; Muranjan, Mamta; Shukla, Anju; Bhavani, Gandham SriLakshmi; Nishimura, Gen; Kutsche, Kerstin; Mortier, Geert.
Afiliación
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • von Elsner L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Neethukrishna K; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Muranjan M; Department of Clinical Genetics, Seth GS Medical College and KEM Hospital, Mumbai, India.
  • Shukla A; Consultant in Clinical Genetics, P.D. Hinduja National Hospital & MRC, Mumbai, India.
  • Bhavani GS; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Nishimura G; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Kutsche K; Department of Pediatric Imaging, Tokyo Metropolitan Children's Medical Center, Fuchu, Japan.
  • Mortier G; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Hum Mutat ; 40(3): 299-309, 2019 03.
Article en En | MEDLINE | ID: mdl-30488656
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Carboxiliasas / Predisposición Genética a la Enfermedad / Epífisis / Estudios de Asociación Genética / Mitocondrias / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: India Pais de publicación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Carboxiliasas / Predisposición Genética a la Enfermedad / Epífisis / Estudios de Asociación Genética / Mitocondrias / Mutación Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: India Pais de publicación: Estados Unidos