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Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Walczak-Sztulpa, Joanna; Wawrocka, Anna; Stanczyk, Malgorzata; Pesz, Karolina; Dudarewicz, Lech; Chrul, Slawomir; Bukowska-Olech, Ewelina; Wieczorek-Cichecka, Nina; Arts, Heleen H; Oud, Machteld M; Smigiel, Robert; Grenda, Ryszard; Obersztyn, Ewa; Chrzanowska, Krystyna H; Latos-Bielenska, Anna.
Afiliação
  • 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.
  • Stanczyk M; Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
  • Pesz K; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland.
  • Dudarewicz L; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
  • Chrul S; Department of Pediatrics, Immunology and Nephrology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
  • Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Wieczorek-Cichecka N; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
  • Arts HH; Department of Pathology and Laboratory Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
  • Oud MM; IWK Health Centre, Clinical Genomics Laboratory, Halifax, Nova Scotia, Canada.
  • Smigiel R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Grenda R; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Obersztyn E; Division of Pediatrics and Rare Disorders, Department of Pediatrics, Wroclaw Medical University, Wroclaw, Poland.
  • Chrzanowska KH; Department of Nephrology, Kidney Transplantation and Hypertension, The Children's Memorial Health Institute, Warsaw, Poland.
  • Latos-Bielenska A; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Am J Med Genet A ; 185(4): 1195-1203, 2021 04.
Article em En | MEDLINE | ID: mdl-33421337
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osso e Ossos / Displasia Ectodérmica / Craniossinostoses / Proteínas do Citoesqueleto / Peptídeos e Proteínas de Sinalização Intracelular Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Europa Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Polônia
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osso e Ossos / Displasia Ectodérmica / Craniossinostoses / Proteínas do Citoesqueleto / Peptídeos e Proteínas de Sinalização Intracelular Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Europa Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Polônia