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The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review
BACKGROUND: The diagnostic process for uncommon disorders with similar manifestations is complicated and requires newer technology, like gene sequencing for a correct diagnosis. MAIN BODY: We described two brothers clinically diagnosed with Carpenter syndrome, which is a condition characterized by t...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8336023/ https://www.ncbi.nlm.nih.gov/pubmed/34348791 http://dx.doi.org/10.1186/s40246-021-00348-x |