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A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.
Bzdega, Katarzyna; Biela, Mateusz; Deutsch, Gail H; Kitzmiller, Joseph A; Rydzanicz, Malgorzata; Ploski, Rafal; Whitsett, Jeffrey A; Smigiel, Robert; Karolak, Justyna A.
Afiliação
  • Bzdega K; Chair and Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.
  • Biela M; Department of Pediatric Infectious Diseases, Wroclaw Medical University, Wroclaw, Poland.
  • Deutsch GH; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wroclaw Medical University, Wroclaw, Poland.
  • Kitzmiller JA; Department of Pathology, University of Washington School of Medicine, Seattle, Washington, USA.
  • Rydzanicz M; Cincinnati Childrens Hospital Medical Center, Neonatology and Pulmonary Biology, Cincinnati, Ohio, USA.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Whitsett JA; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Smigiel R; The Perinatal Institute and Section of Neonatology, Perinatal and Pulmonary Biology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
  • Karolak JA; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wroclaw Medical University, Wroclaw, Poland.
Clin Genet ; 105(2): 190-195, 2024 02.
Article em En | MEDLINE | ID: mdl-37821225
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome do Desconforto Respiratório do Recém-Nascido / Insuficiência Respiratória Tipo de estudo: Etiology_studies Limite: Humans / Male / Newborn Idioma: En Revista: Clin Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Polônia
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome do Desconforto Respiratório do Recém-Nascido / Insuficiência Respiratória Tipo de estudo: Etiology_studies Limite: Humans / Male / Newborn Idioma: En Revista: Clin Genet Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Polônia