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Article

A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome.

European journal of medical genetics - 1 Oct 2022

Sarma Asodu Sandeep, Banda Lavanya, Rao Vupputuri Madhava, Desai Ankush, Dalal Ashwin

Abstract excerpt

Bamforth-Lazarus syndrome is a rare autosomal recessive disease caused by biallelic loss-of-function variants in the FOXE1 gene. The condition is characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, spiky hair, with or without choanal atresia, and bifid epiglottis. To date, seven pathogenic variants have been reported in the FOXE1 gene causing Bamforth-Lazarus...

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PMID: 35963604
DOI: 10.1016/j.ejmg.2022.104591

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