Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity-Reference-Cited by-同舟云学术

Improving clinical diagnosis in SHOX deficiency: the importance of growth velocity

Published:2017-12-06 Issue:2 Volume:83 Page:438-444
ISSN:0031-3998
Container-title:Pediatric Research
language:en
Short-container-title:Pediatr Res

Author:

Genoni Giulia,Monzani Alice,Castagno Matteo,Ricotti Roberta,Rapa Anna,Petri Antonella,Babu Deepak,Giordano Mara,Prodam Flavia,Bona Gianni,Bellone Simonetta

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://www.nature.com/articles/pr2017247.pdf

Reference22 articles.

1. Rao E, Weiss B, Fukami M et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16:54–63.

2. Binder G . Short stature due to SHOX deficiency: genotype, phenotype and therapy. Horm Res Paediatr 2011;75:81–89.

3. Nicosi A, Caruso-Nicoletti M . Epidemiology of SHOX deficiency. J Endocrinol Invest 2010;33:7–10.

4. Cohen P, Rogol AD, Deal CL et al. Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop. J Clin Endocrinol Metab 2008;93:4210–4217.

5. Rappold G, Blum WF, Shavrikova EP et al. Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. J Med Genet 2007;44:306–313.

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