SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation

Abstract A cohort study on the growth of 19 Argentinean children, aged 0 to 18 years, and 11 of their first-degree relatives with alterations in the SHOX gene or its regulatory regions is reported. Children are born shorter and experience a growth delay during childhood with a stunted pubertal growt...

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Veröffentlicht in:	Journal of pediatric genetics (Birmingham, Ala.) Ala.), 2019-09, Vol.8 (3), p.123-132
Hauptverfasser:	del Pino, Mariana, Aza-Carmona, Miriam, Medino-Martín, David, Gomez, Abel, Heath, Karen E., Fano, Virginia, Obregon, María Gabriela
Format:	Artikel
Sprache:	eng
Schlagworte:	Original Original Article
Online-Zugang:	Volltext
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