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April 21, 2022

BPES is an autosomal dominant, sex-limited condition with a distinctive eyelid phenotype

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BPES is an autosomal dominant, sex-limited condition with a distinctive eyelid phenotype

Two forms have been described: in type I, POF related infertility is an adjunct to the condition, and type II is not associated with POF (55). BPES type I is mapped to 3q22-23(54). Two genes are identified within the breakpoint region. One of the genes, termed FOXL2 appears predominantly in the ovaries of adult humans. In previous reports, all mutations had been exclusively localized in the FOXL2 gene (56). However, two other members of this family, FOXO1A and FOXO3A, are candidate genes for the development of POF (57).

Autoimmune polyendocrinopathy- candidiasisectodermal dystrophy (APECED)

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AIRE gene, is responsible for autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophy syndrome (APECED) (53). (more…)


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