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

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Description scientific article published on 11 February 2021
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author: Rosalba Carrozzo  Emanuele Agolini  Sarah J Beecroft 

Publication date February 11, 2021
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