The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review

The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review

Abstract 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 characteriz...

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Bibliographic Details
Main Authors: Samantha S. Sáenz, Benjamin Arias, Kazuyoshi Hosomichi, Vanessa I. Romero
Format: Article
Language:English
Published: BMC 2021-08-01
Series:Human Genomics
Subjects:
Rare diseases
ATRX syndrome
Whole exome sequencing
Online Access:https://doi.org/10.1186/s40246-021-00348-x

Internet

https://doi.org/10.1186/s40246-021-00348-x

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