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Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.

Clinical dysmorphology - 1 Apr 2022

Pickwick Charlotte, Callewaert Bert, van Dijk Fleur, Harris Juliette, Wakeling Emma, Hay Eleanor, Yeo Mildrid, Chakrapani Anupam, Baptista Julia, Moore Sandra, Yoong Michael, Chatterjee Fiona, Ghali Neeti

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PMID: 34954732
DOI: 10.1097/MCD.0000000000000404

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