Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.

Fatima Alabdulrazzaq,Talal Alanzi,Haya H Al-Balool,Alice Gardham,Emma Wakeling,Harry G Leitch,Moeenaldeen AlSayed,Maha Abdulrahim,Abdulaziz Aladwani,Antonio Romito,Kapil Kampe,Sacha Ferdinandusse,Ashraf H Aboelanine,Amira Abdullah,Amal Alwadani,Laila Bastaki,Frédéric M Vaz,Aida M Bertoli-Avella,Dana Marafi

Molecular genetics & genomic medicine（2023）

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摘要

Our study expands the allelic spectrum of ELOVL4-related ISQMR. The detection of the same exonic deletion in two unrelated Saudi family from same tribe suggests a tribal founder mutation.

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关键词

autosomal recessive, copy number variant, ELOVL4, neuro-ichthyosis

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