RASopathies: Clinical Diagnosis in the First Year of Life

Diagnosis within Noonan syndrome and related disorders (RASopathies) still presents a challenge during the first months of life, since most clinical features used to differentiate these conditions become manifest later in childhood. Here, we retrospectively reviewed the clinical records referred to...

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Main Authors: Digilio, M.C., Lepri, F., Baban, A., Dentici, M.L., Versacci, P., Capolino, R., Ferese, R., De Luca, A., Tartaglia, M., Marino, B., Dallapiccola, B.
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2011
Fag:
Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3214957/
https://ncbi.nlm.nih.gov/pubmed/22190897
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000331266
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