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De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome
Pfeiffer syndrome (PS) is an autosomal dominant disorder with three subtypes stemming from heterozygous mutations in the fibroblast growth factors FGFR1 and FGFR2. The subtypes overlap with heterogeneous clinical manifestations and variable prognosis dependent on neurological and respiratory comprom...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9537020/ https://www.ncbi.nlm.nih.gov/pubmed/36212619 http://dx.doi.org/10.1155/2022/4791082 |