Article
Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.
Molecular genetics & genomic medicine - 1 Jan 2024
Abosabie Salma A S, Abosabie Sara A, Alfaifi Jaber, Alqahtani Youssef A, Shati Ayed A, Alotaibi Najmah A, Alghamdi Ohoud A, Alotaibi Ghadi N, Baabdullah Abdulrahman A, Kabrah Lama K, Kamal Naglaa M, Oshi Mohammed A M, Abdallah Enas A A
Abstract excerpt
BACKGROUND: Alström syndrome (AS) represents an exceptionally rare genetic disorder characterized by a constellation of features including cardiomyopathy, progressive hearing and vision impairment, as well as obesity. This study seeks to elucidate the genetic underpinnings of this syndrome within the Saudi Arabian population. METHODS: Employing an extended family cohort, we conducted an exhaustive molecular...
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