Sağ, S. ÖzemriGörukmez, O.Türe, M.Şahintürk, S.Topak, A.Gülten, T.Schanze, D.Yakut, T.Zenker, M.2024-08-092024-08-092015-01-011015-8146https://hdl.handle.net/11452/43851A novel mutation in the FRAS1 gene in a patient with Fraser syndrome: Fraser Syndrome (FS) is a rare disease with autosomal recessive inheritance characterized by cryptophthalmus, cutaneous syndactyly, laryngeal and urogenital anomalies. Mutations in the genes FRAS1 and FREM2 encoding components of a protein complex of the extracellular matrix, and recently also mutations in GRIP1 have been found to be causative for FS. We present here molecular and clinical findings of a patient with FS who was found to have a novel homozygous frameshift mutation c.9739delA, p.(T3247Pfs*44) in exon 63 of FRAS1 gene. Further testing confirmed the heterozygous carrier status of parents.eninfo:eu-repo/semantics/closedAccessCryptophthalmosFraser syndrome fras1CryptophthalmusSyndactylyBiotechnology & applied microbiologyGenetics & heredityMedical ethicsResearch & experimental medicineArticle0003540728000032127261