TY  - JOUR
AU  - Sentchordi-Montane, Lucia
AU  - Benito-Sanz, Sara
AU  - Aza-Carmona, Miriam
AU  - Diaz-Gonzalez, Francisca
AU  - Modamio-Hoybjor, Silvia
AU  - de la Torre, Carolina
AU  - Nevado, Julian
AU  - Ruiz-Ocana, Pablo
AU  - Bezanilla-Lopez, Carolina
AU  - Prieto, Pablo
AU  - Bahillo-Curieses, Pilar
AU  - Carcavilla, Atilano
AU  - Mulero-Collantes, Ines
AU  - Barreda-Bonis, Ana C.
AU  - Cruz-Rojo, Jaime
AU  - Ramirez-Fernandez, Joaquin
AU  - Bermudez de la Vega, Jose Antonio
AU  - Travessa, Andre M.
AU  - de Buitrago Amigo, Jesus Gonzalez
AU  - Del Pozo, Angela
AU  - Vallespin, Elena
AU  - Solis, Mario
AU  - Goetz, Carlos
AU  - Campos-Barros, Angel
AU  - Santos-Simarro, Fernando
AU  - Gonzalez-Casado, Isabel
AU  - Ros-Perez, Purificacion
AU  - Parron-Pajares, Manuel
AU  - Heath, Karen E.
PY  - 2021
DO  - 10.1530/EJE-21-0557
SN  - 0804-4643
UR  - https://hdl.handle.net/10668/25214
T2  - European journal of endocrinology
AB  - 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...
LA  - en
PB  - Bioscientifica ltd
KW  - Rubinstein-taybi-syndrome
KW  - Idiopathic short stature
KW  - Par1 deletion
KW  - Growth
KW  - Mutations
KW  - Identification
KW  - Disorders
KW  - Missense
KW  - Children
TI  - High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies
TY  - research article
VL  - 185
ER  -