High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

doi:10.1530/EJE-21-0557

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Article

High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.

European journal of endocrinology - 11 Oct 2021

Sentchordi-Montané Lucía, Benito-Sanz Sara, Aza-Carmona Miriam, Díaz-González Francisca, Modamio-Høybjør Silvia, de la Torre Carolina, Nevado Julián, Ruiz-Ocaña Pablo, Bezanilla-López Carolina, Prieto Pablo, Bahíllo-Curieses Pilar, Carcavilla Atilano, Mulero-Collantes Inés, Barreda-Bonis Ana C, Cruz-Rojo Jaime, Ramírez-Fernández Joaquín, Bermúdez de la Vega José Antonio, Travessa André M, González de Buitrago Amigo Jesús, Del Pozo Angela, Vallespín Elena, Solís Mario, Goetz Carlos, Campos-Barros Ángel, Santos-Simarro Fernando, González-Casado Isabel, Ros-Pérez Purificación, Parrón-Pajares Manuel, Heath Karen E

Abstract excerpt

OBJECTIVE: Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in genes implicated in skeletal dysplasias in probands with short stature and mild skeletal anomalies. DESIGN: Clinical and radiological data were collected from 108 probands with short stature and mild skeletal anomalies. METHODS:...

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PMID: 34516402
DOI: 10.1530/EJE-21-0557

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