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Two patients with Apert syndrome with different mutations: the importance of early diagnosis
Apert syndrome is an autosomal dominant craniosynostosis syndrome accompanied by limb anomalies. The fibroblast growth factor receptor 2 (FGFR2) gene is responsible for the disease and two different heterozygous mutations, p.Pro253Arg and p.Ser252Trp, have been defined as responsible in the majority...
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| Publicado no: | Turk Pediatri Ars |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Turkish Pediatrics Association
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5819862/ https://ncbi.nlm.nih.gov/pubmed/29483804 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5152/TurkPediatriArs.2016.3305 |
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