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Article

Noonan syndrome with loose anagen hair with variants in the PPP1CB gene: First familial case reported.

American journal of medical genetics. Part A - 1 Apr 2021

Huckstadt Victoria, Chinton Josefina, Gomez Abel, Obregon María Gabriela, Gravina Luis Pablo

Abstract excerpt

Rasopathies are a group of phenotypically overlapping conditions that include Noonan, Noonan with multiple lentigines, Noonan with loose anagen hair, Costello, Cardio-facio-cutaneous, and Neurofibromatosis-Noonan syndromes. Noonan syndrome with loose anagen hair (NS-LAH) is clinically characterized by prominent forehead, macrocephaly, growth hormone deficiency, sparse, loose and slow-growing anagen hair,...

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Identifiers

PMID: 33491856
DOI: 10.1002/ajmg.a.62089

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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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