Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD)...

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Detalles Bibliográficos
Autores principales: Capalbo, Donatella, Scala, Maria Giuseppa, Melis, Daniela, Minopoli, Giorgia, Improda, Nicola, Palamaro, Loredana, Pignata, Claudio, Salerno, Mariacarolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231415/
https://www.ncbi.nlm.nih.gov/pubmed/22995099
http://dx.doi.org/10.1186/1824-7288-38-48

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4231415/
https://www.ncbi.nlm.nih.gov/pubmed/22995099
http://dx.doi.org/10.1186/1824-7288-38-48

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