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Homozygous Missense Variant in the Solute Carrier Organic Anion Transporter 2A1 (SLCO2A1) Gene Underlies Isolated Nail Clubbing.

Genes - 8 Feb 2023

Umair Muhammad, Bilal Muhammad, Shah Khadim, Said Gulab, Ahmad Farooq

Abstract excerpt

BACKGROUND: Inherited isolated nail clubbing is a very rare Mendelian condition in humans, characterized by enlargement of the terminal segments of fingers and toes with thickened nails. Mutations in two genes have been reported to cause isolated nail clubbing in humans, which are the SLCO2A1 gene and the HPGD gene. OBJECTIVES: An extended Pakistani family having two affected siblings born of unaffected...

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PMID: 36833358
DOI: 10.3390/genes14020430
PMCID: PMC9957043

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