Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects-Reference-Cited by-同舟云学术

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

Published:2021-04 Issue:5 Volume:42 Page:506-519
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Beecroft Sarah J.¹^ORCID,Ayala Marcos²,McGillivray George³,Nanda Vikas⁴,Agolini Emanuele⁵^ORCID,Novelli Antonio⁵,Digilio Maria C.⁶,Dotta Andrea⁷,Carrozzo Rosalba⁸^ORCID,Clayton Joshua¹,Gaffney Lydia³,McLean Catriona A.⁹,Ng Jessica¹⁰,Laing Nigel G.¹,Matteson Paul²,Millonig James¹¹,Ravenscroft Gianina¹

Affiliation:

1. Faculty of Health and Medical Sciences, Centre of Medical Research, Harry Perkins Institute of Medical Research University of Western Australia Nedlands Western Australia Australia

2. Center for Advanced Biotechnology and Medicine Piscataway New Jersey USA

3. Victorian Clinical Genetics Services, Murdoch Children's Research Institute Royal Women's Hospital Melbourne Australia

4. Department of Biochemistry and Molecular Biology, Center for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School Rutgers University Piscataway New Jersey USA

5. Laboratory of Medical Genetics Bambino Gesù Children's Hospital Rome Italy

6. Medical Genetics Unit Bambino Gesù Children's Hospital, IRCCS Rome Italy

7. Division of Newborn Medicine Bambino Gesù Children's Hospital, IRCCS Rome Italy

8. Unit of Muscular and Neurodegenerative Disorders, Department of Neurosciences Bambino Gesù Children's Hospital Rome Italy

9. Anatomical Pathology and Victorian Neuromuscular Laboratory Service Alfred Health and Monash University Melbourne Victoria Australia

10. Department of Anatomical Pathology Royal Children's Hospital Melbourne Australia

11. Department of Neuroscience and Cell Biology, Center for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School Rutgers University Piscataway New Jersey USA

Funder

National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24179

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