Article

The Novel Mutations in the FRAS1 Gene: Two Case Report

2025-12-05

Abstract excerpt

Fraser Syndrome (FS) is an extremely rare genetic disorder with a strong pattern of inheritability that follows the autosomal recessive fashion; the fundamental clinical features include congenital anomalies such as cryptophthalmos, syndactyly, as well as, renal damage. The FRAS1 gene is one of the principal genes implicated in FS. The role of genetic mutations in the development of FS has not been comprehensively...

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Literature Corpus work: 009c142a-4989-50a2-a253-9d1282df574f
DOI: 10.20944/preprints202512.0542.v1

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