Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family
Article in Molecular Genetics & Genomic Medicine (November 2023)
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Article in Molecular Genetics & Genomic Medicine (November 2023)
Article in Journal of Medical Genetics (June 2023)
Article in Reproductive Biology and Endocrinology (March 2023)