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Article

Alazami syndrome: the first case of papillary thyroid carcinoma.

Journal of human genetics - 1 Jan 2020

Ivanovski Ivan, Caraffi Stefano Giuseppe, Magnani Elisa, Rosato Simonetta, Pollazzon Marzia, Matalonga Leslie, Piana Simonetta, Nicoli Davide, Baldo Chiara, Bernasconi Sergio, Frasoldati Andrea, Zuffardi Orsetta, Garavelli Livia

Abstract excerpt

Alazami syndrome (MIM#615071) is a rare developmental disorder caused by biallelic variants in the LARP7 gene. Hallmark features include short stature, global developmental delay, and distinctive facial features. To date, 23 patients from 11 families have been reported in the literature. Here we describe a 19-year-old man who, in association with the typical features of Alazami syndrome, was diagnosed at the age...

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PMID: 31656314
DOI: 10.1038/s10038-019-0682-5

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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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