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Article

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

Italian journal of pediatrics - 20 Sept 2012

Capalbo Donatella, Scala Maria Giuseppa, Melis Daniela, Minopoli Giorgia, Improda Nicola, Palamaro Loredana, Pignata Claudio, Salerno Mariacarolina

Abstract excerpt

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), and cognitive deficits are common features. We compare in two patients with molecularly confirmed NS/LAH diagnosis,...

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Identifiers

PMID: 22995099
DOI: 10.1186/1824-7288-38-48
PMCID: PMC4231415

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