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Article

GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).

American journal of medical genetics. Part A - 1 Nov 2013

Mazzanti Laura, Tamburrino Federica, Scarano Emanuela, Perri Annamaria, Vestrucci Benedetta, Guidetti Monica, Rossi Cesare, Tartaglia Marco

Abstract excerpt

Noonan-like syndrome with loose anagen hair (NS/LAH or Mazzanti Syndrome) is caused by a single missense mutation in SHOC2 promoting tN-myristoylation of the encoded protein. Cardinal features include facial features resembling NS, short stature often associated with proven growth hormone deficiency (GHD), typical ectodermal anomalies, and distinctive behavior. Overall, the clinical features are more severe than...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24124081
DOI: 10.1002/ajmg.a.36255

Genes

IGF1
SDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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