Five novel ALMS1 gene mutations in six patients with Alström syndrome.

Abstract excerpt

BACKGROUND: Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene. METHODS: We describe the clinical and five novel mutational screening findings in six patients with Alström syndrome from five families in a single center with distinct clinical presentations of this condition. RESULTS: Five novel mutations in ALMS1 in exon 8 and intron 17 were identified, one of...

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