Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes

Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes

This study aimed to evaluate a cohort of patients with syndromic tall stature of unknown etiology via exome sequencing (ES) to identify novel candidate genes for overgrowth conditions. We enrolled 37 patients with heights greater than the 97.7th percentile and syndromic features. The ES analysis fir...

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Main Authors: Gabriela Jeesoo Kim, Edoarda Vasco de Albuquerque Albuquerque, Raissa C Rezende, Laurana De Polli Cellin, Ana Maria Santillan Vasconez, Ana C V Krepischi, Lucas Santana, Antônio Marcondes Lerario, Vinicius de Souza, Renata Scalco, Alexander A L Jorge
Format: Article
Language:English
Published: Bioscientifica 2025-07-01
Series:Endocrine Connections
Subjects:
tall stature
exome sequencing
candidate gene
syndromic tall stature
copy number variant
variant
Online Access:https://ec.bioscientifica.com/view/journals/ec/14/7/EC-25-0137.xml
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https://ec.bioscientifica.com/view/journals/ec/14/7/EC-25-0137.xml

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