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

Sarah J. Beecroft, Marcos Ayala, George McGillivray, Vikas Nanda, Emanuele Agolini, Antonio Novelli, Maria C. Digilio, Andrea Dotta, Rosalba Carrozzo, Joshua Clayton, Lydia Gaffney, Catriona A. McLean, Jessica Ng, Nigel G. Laing, Paul Matteson, James Millonig, Gianina Ravenscroft

Research output: Contribution to journal › Article › peer-review

14 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology