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Article

Noonan syndrome‐like disorder with loose anagen hair: A second case with neuroblastoma

5 Apr 2015

Abstract excerpt

Noonan-like syndrome with loose anagen hair (NSLH), also known as Mazzanti syndrome, is a RASopathy characterized by craniofacial features resembling Noonan syndrome, cardiac defects, cognitive deficits and behavioral issues, reduced growth generally associated with GH deficit, darkly pigmented skin, and an unique combination of ectodermal anomalies. Virtually all cases of NSLH are caused by an invariant and...

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PMID: 25846317
DOI: 10.1002/ajmg.a.37082

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