| Autor: |
S, Ozemri Sag, O, Gorukmez, M, Ture, S, Sahinturk, A, Topak, T, Gulten, D, Schanze, T, Yakut, M, Zenker |
| Rok vydání: |
2015 |
| Předmět: |
|
| Zdroj: |
Genetic counseling (Geneva, Switzerland). 26(1) |
| ISSN: |
1015-8146 |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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