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A novel FGFR2 (S137W) mutation resulting in Apert syndrome: A case report
RATIONALE: Apert syndrome (AS) is an autosomal dominant inheritance pattern of the most severe craniosynostosis syndrome. AS is characterized by synostosis of cranial sutures and acrocephaly, including brachycephaly, midfacial hypoplasia, and syndactyly of the hands and feet. Patients with AS often...
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| Pubblicato in: | Medicine (Baltimore) |
|---|---|
| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Lippincott Williams & Wilkins
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7523854/ https://ncbi.nlm.nih.gov/pubmed/32991447 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000022340 |
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