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No, it is not mutually exclusive! A case report of a girl with two genetic diagnoses: Craniofrontonasal dysplasia and pontocerebellar hypoplasia type 1B
KEY CLINICAL MESSAGE: Multiple genetic disorders can coexist in one patient. When the phenotype is not fully explained with one diagnosis, it is recommended to perform further genetic investigations in search for coexisting second diagnosis. ABSTRACT: Craniofrontonasal dysplasia (CFND) (MIM: 304110)...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10172455/ https://www.ncbi.nlm.nih.gov/pubmed/37180334 http://dx.doi.org/10.1002/ccr3.7332 |