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An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure
In children with genetic syndromes, short stature is frequently a characteristic feature that, when associated with other specific manifestations, significantly aids in clinical diagnosis. In this report, an atypical case of Noonan syndrome (NS) in a 5.5-year-old child with mesomelic short stature i...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158368/ https://www.ncbi.nlm.nih.gov/pubmed/30294303 http://dx.doi.org/10.3389/fendo.2018.00557 |