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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)...

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Detalles Bibliográficos
Autores principales:	Ibrahim, Iman, Scriver, Tara, Basalom, Shuaa A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2023
Materias:	Case Report
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

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