Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature

Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2–15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. His past...

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Detalles Bibliográficos
Publicado en:Case Rep Endocrinol
Main Authors: Sandberg, Elizabeth S., Calikoglu, Ali S., Loechner, Karen J., Snyder, Lydia L.
Formato: Artigo
Idioma:Inglês
Publicado: Hindawi 2017
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5602651/
https://ncbi.nlm.nih.gov/pubmed/28948052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/7287351
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