Article

Multiple independent gene disorders causing Bardet--Biedl syndrome, congenital hypothyroidism, and hearing loss in a single Indian consanguineous patient

2023-02-24

Abstract excerpt

We report a 20-year-old female, adopted Indian patient with over 662 Mb regions of homozygosity who presented with variants associated with symptoms in BBS6, STRC, and DUOX2 genes. And a VUS in the TNNT2 gene, so far without clinical correlation. Symptoms are not explained by only one gene.

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Literature Corpus work: 610439ae-962d-513f-b749-2ce4573bab66
DOI: 10.22541/au.167722036.60770586/v1

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