Article

Meta-analysis of genotype-phenotype associations in Alström syndrome

2022-10-22

Abstract excerpt

<h4>Introduction</h4> Alström syndrome (ALMS, #203800) is an ultra-rare monogenic recessive disease. This the syndrome is associated with mutations in the ALMS1 gene, which codes for a centrosome structural protein responsible for centrosome cohesion. The type of mutation associated with ALMS is mostly cLOF (97%) and they are mainly located in exons 8, 10 and 16 of the gene. Other studies in the literature have tr...

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Literature Corpus work: dc061dba-499e-56d6-9598-6b6911e70d43
DOI: 10.1101/2022.10.21.22281173

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