SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation.
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SUBMITTER: Del Pino M
PROVIDER: S-EPMC6688879 | biostudies-literature | 2019 Sep
REPOSITORIES: biostudies-literature
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SHOX Deficiency in Argentinean Cohort: Long-Term Auxological Follow-Up and a Family's New Mutation.
Del Pino Mariana M Aza-Carmona Miriam M Medino-Martín David D Gomez Abel A Heath Karen E KE Fano Virginia V Obregon María Gabriela MG
Journal of pediatric genetics 20190528 3
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 <i>SHOX</i> gene or its regulatory regions is reported. Children are born shorter and experience a growth delay during childhood with a stunted pubertal growth spurt. Body disproportion, with a sitting height/height ratio above +2 standard deviation score (SDS), was already present as early as 2 years old. Hand length was normal. Shortening of the radius, wi ...[more]
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