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- W3137788221 abstract "Objective To explore the clinical characteristics and genetic basis for a pair of twins affected with hyaline fibromatosis syndrome (HFS). Methods Clinical data of the twins were retrospectively analyzed. High-throughput sequencing was carried out to detect potential pathogenic variants. CLUSTALX was employed to analyze cross-species conservation of the mutant amino acids. Impact of the mutations was predicted by using software including PolyPhen-2 and Mutation taster. Results The pair of twins have featured growth and intelligence retardation, and were found to carry compound heterozygous variants of the ANTXR2 gene including c.1214G>A and c.1074delT, among which c.1214G>A was unreported previously. Both variants were predicted to be pathogenic. In addition to growth and mental delay, the pair of twins also featured hyperplasia of the gum and soft tissue-like masses of the auricle. The younger brother had rupture of the auricle mass during follow-up. Conclusion The patients' condition can probably be attributed to the compound heterozygous variants of the ANTXR2 gene. Above finding has facilitated molecular diagnosis of the patients." @default.
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- W3137788221 date "2021-03-10" @default.
- W3137788221 modified "2023-09-23" @default.
- W3137788221 title "Analysis of pathogenic variants in a Chinese pedigree affected with hyaline fibromatosis syndrome" @default.
- W3137788221 doi "https://doi.org/10.3760/cma.j.cn511374-20200625-00472" @default.
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