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Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
Beecroft, Sarah J; Ayala, Marcos; McGillivray, George; Nanda, Vikas; Agolini, Emanuele; Novelli, Antonio; Digilio, Maria C; Dotta, Andrea; Carrozzo, Rosalba; Clayton, Joshua; Gaffney, Lydia; McLean, Catriona A; Ng, Jessica; Laing, Nigel G; Matteson, Paul; Millonig, James; Ravenscroft, Gianina.
Affiliation
  • Beecroft SJ; Faculty of Health and Medical Sciences, Centre of Medical Research, Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
  • Ayala M; Center for Advanced Biotechnology and Medicine, Piscataway, New Jersey, USA.
  • McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Women's Hospital, Melbourne, Australia.
  • Nanda V; Department of Biochemistry and Molecular Biology, Center for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School, Rutgers University, Piscataway, New Jersey, USA.
  • Agolini E; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.
  • Novelli A; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.
  • Digilio MC; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Dotta A; Division of Newborn Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Carrozzo R; Unit of Muscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Rome, Italy.
  • Clayton J; Faculty of Health and Medical Sciences, Centre of Medical Research, Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
  • Gaffney L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Women's Hospital, Melbourne, Australia.
  • McLean CA; Anatomical Pathology and Victorian Neuromuscular Laboratory Service, Alfred Health and Monash University, Melbourne, Victoria, Australia.
  • Ng J; Department of Anatomical Pathology, Royal Children's Hospital, Melbourne, Australia.
  • Laing NG; Faculty of Health and Medical Sciences, Centre of Medical Research, Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
  • Matteson P; Center for Advanced Biotechnology and Medicine, Piscataway, New Jersey, USA.
  • Millonig J; Department of Neuroscience and Cell Biology, Center for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School, Rutgers University, Piscataway, New Jersey, USA.
  • Ravenscroft G; Faculty of Health and Medical Sciences, Centre of Medical Research, Harry Perkins Institute of Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
Hum Mutat ; 42(5): 506-519, 2021 05.
Article in En | MEDLINE | ID: mdl-33565183
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple Limits: Animals / Humans Language: En Journal: Hum Mutat Year: 2021 Document type: Article
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple Limits: Animals / Humans Language: En Journal: Hum Mutat Year: 2021 Document type: Article