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Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1.
Ain, Noor Ul; Baroncelli, Marta; Costantini, Alice; Ishaq, Tayyaba; Taylan, Fulya; Nilsson, Ola; Mäkitie, Outi; Naz, Sadaf.
Afiliación
  • Ain NU; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
  • Baroncelli M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Costantini A; Center for Molecular Medicine and Pediatric Endocrinology Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
  • Ishaq T; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Taylan F; School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
  • Nilsson O; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Mäkitie O; Center for Molecular Medicine and Pediatric Endocrinology Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
  • Naz S; School of Medical Sciences, Örebro University and Örebro University Hospital, Örebro, Sweden.
J Med Genet ; 58(5): 351-356, 2021 05.
Article en En | MEDLINE | ID: mdl-32591345
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Desarrollo Óseo / Glucosamina 6-Fosfato N-Acetiltransferasa / Fémur / Húmero Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adult / Aged / Aged80 / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: J Med Genet Año: 2021 Tipo del documento: Article País de afiliación: Pakistán
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades del Desarrollo Óseo / Glucosamina 6-Fosfato N-Acetiltransferasa / Fémur / Húmero Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Adult / Aged / Aged80 / Animals / Female / Humans / Male / Middle aged Idioma: En Revista: J Med Genet Año: 2021 Tipo del documento: Article País de afiliación: Pakistán