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...

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Vydáno v:Front Endocrinol (Lausanne)
Hlavní autoři: Savarese, Emanuela, Di Felice, Benedetta, Miconi, Francesco, Cabiati, Gabriele, Celi, Federica, Crescenzi, Francesco, Principi, Nicola, Esposito, Susanna
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2018
Témata:
Endocrinology
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6158368/
https://ncbi.nlm.nih.gov/pubmed/30294303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2018.00557
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