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...

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Detalles Bibliográficos
Autores principales: Sáenz, Samantha S., Arias, Benjamin, Hosomichi, Kazuyoshi, Romero, Vanessa I.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Review
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

Internet

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

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