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

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

CLINICAL DYSMORPHOLOGY（2022）

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摘要

Pickwick, Charlottea; Callewaert, Bertb; van Dijk, Fleurc; Harris, Juliettec; Wakeling, Emmad; Hay, Eleanord; Yeo, Mildride; Chakrapani, Anupame; Baptista, Juliaf,g; Moore, Sandraf; Yoong, Michaelh; Chatterjee, Fionai; Ghali, Neetic Author Information

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关键词

autosomal recessive cutis laxa,phenotypic spectrum

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