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Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.
Akgün Dogan, Özlem; Demir, Gizem Ürel; Kosukcu, Can; Taskiran, Ekim Z; Simsek-Kiper, Pelin Özlem; Utine, Gülen Eda; Alikasifoglu, Mehmet; Boduroglu, Koray.
Afiliación
  • Akgün Dogan Ö; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: ozlem.akgun@hacettepe.edu.tr.
  • Demir GÜ; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Kosukcu C; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Taskiran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Simsek-Kiper PÖ; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Alikasifoglu M; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Boduroglu K; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Eur J Med Genet ; 62(6): 103535, 2019 Jun.
Article en En | MEDLINE | ID: mdl-30217754
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fenotipo / Trastornos del Metabolismo del Fósforo / Anomalías Múltiples / Receptores de Superficie Celular / Discapacidad Intelectual / Mutación Tipo de estudio: Diagnostic_studies Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Fenotipo / Trastornos del Metabolismo del Fósforo / Anomalías Múltiples / Receptores de Superficie Celular / Discapacidad Intelectual / Mutación Tipo de estudio: Diagnostic_studies Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article