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Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report.

Puerto Rico health sciences journal - 1 Sept 2021

Michelen-Gómez Eduardo, Guardiola-Dávila Gabriel, Izquierdo Natalio J

Abstract excerpt

Compound heterozygous mutations, where two distinct mutated alleles are present within a particular gene, can give rise to the Bardet-Biedl syndrome (BBS). There is limited evidence suggesting that some compound heterozygotes can present with milder phenotypic characteristics than homozygotes. We report on the clinical characteristics of a 22-year-old Puerto Rican male who was compound heterozygous for the...

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PMID: 34792930

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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