Literature DB >> 17911654

Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature.

Alexander A L Jorge, Ivo J P Arnhold.   

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Year:  2007        PMID： 17911654      PMCID： PMC2597966     

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

1.  SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.

Authors:  Alexander A L Jorge; Silvia C Souza; Miriam Y Nishi; Ana E Billerbeck; Débora C C Libório; Chong A Kim; Ivo J P Arnhold; Berenice B Mendonca
Journal:  Clin Endocrinol (Oxf)       Date:  2007-01       Impact factor: 3.478

2.  Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

Authors:  Gudrun Rappold; Werner F Blum; Elena P Shavrikova; Brenda J Crowe; Ralph Roeth; Charmian A Quigley; Judith L Ross; Beate Niesler
Journal:  J Med Genet       Date:  2006-12-20       Impact factor: 6.318

3.  Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature.

Authors:  Gerhard Binder; Michael B Ranke; David D Martin
Journal:  J Clin Endocrinol Metab       Date:  2003-10       Impact factor: 5.958
  3 in total

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