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Article

Milder presentation of TELO2-related syndrome in two sisters homozygous for the p.Arg609His pathogenic variant.

European journal of medical genetics - 1 Jan 2021

Ciaccio Claudia, Duga Valentina, Pantaleoni Chiara, Esposito Silvia, Moroni Isabella, Pinelli Michele, Castello Raffaele, Nigro Vincenzo, Chiapparini Luisa, D'Arrigo Stefano

Abstract excerpt

Biallelic loss of function of TELO2 gene cause a severe syndromic disease mainly characterized by global developmental delay with poor motor and language acquisitions, microcephaly, short stature, minor facial and limbs anomalies, sleep disorder, spasticity, and balance impairment up to ataxia. TELO2-related syndrome, also known as You-Hoover-Fong Syndrome, is extremely rare and since its first description in...

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Identifiers

PMID: 33307281
DOI: 10.1016/j.ejmg.2020.104116

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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