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

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 growth spurt....

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Detalhes bibliográficos
Publicado no:J Pediatr Genet
Main Authors: del Pino, Mariana, Aza-Carmona, Miriam, Medino-Martín, David, Gomez, Abel, Heath, Karen E., Fano, Virginia, Obregon, María Gabriela
Formato: Artigo
Idioma:Inglês
Publicado em: Georg Thieme Verlag KG 2019
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6688879/
https://ncbi.nlm.nih.gov/pubmed/31406617
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1691788
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