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Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
Walczak-Sztulpa, Joanna; Wawrocka, Anna; Sobierajewicz, Agata; Kuszel, Lukasz; Zawadzki, Jan; Grenda, Ryszard; Swiader-Lesniak, Anna; Kocyla-Karczmarewicz, Beata; Wnuk, Anna; Latos-Bielenska, Anna; Chrzanowska, Krystyna H.
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  • Walczak-Sztulpa J; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Sobierajewicz A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Kuszel L; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Zawadzki J; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland.
  • Grenda R; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland.
  • Swiader-Lesniak A; Department of Anthropology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Kocyla-Karczmarewicz B; Department of Ophthalmology, The Children's Memorial Health Institute, Warsaw, Poland.
  • Wnuk A; Department of Diagnostic Imaging, The Children's Memorial Health Institute, Warsaw, Poland.
  • Latos-Bielenska A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Chrzanowska KH; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Am J Med Genet A ; 173(5): 1364-1368, 2017 May.
Article en En | MEDLINE | ID: mdl-28332779
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Huesos / Displasia Ectodérmica / Proteínas / Craneosinostosis Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans País/Región como asunto: Europa Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Huesos / Displasia Ectodérmica / Proteínas / Craneosinostosis Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans País/Región como asunto: Europa Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Estados Unidos