An Association of PTPN11 and SHOX Mutations in a Male Presenting With Syndromic Growth Failure

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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Bibliographic Details
Main Authors: Emanuela Savarese, Benedetta Di Felice, Francesco Miconi, Gabriele Cabiati, Federica Celi, Francesco Crescenzi, Nicola Principi, Susanna Esposito
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-09-01
Series:Frontiers in Endocrinology
Subjects:
failure to thrive
growth hormone
Noonan syndrome
SHOX gene
short stature
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2018.00557/full

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https://www.frontiersin.org/article/10.3389/fendo.2018.00557/full

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