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Article

The first Iranian patient with You-Hoover-Fong syndrome and a review of the literature on 27 cases: expanding the genotypic and phenotypic spectrum.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2024

Shokrollahi Nima, Tehrani Fateh Sahand, Nouri Mohammad, Behnam Amirmohammad, Moghimi Parinaz, Sadeghi Hossein, Mirfakhraie Reza, Roudgari Hassan, Jamshidi Sanaz, Miryounesi Mohammad, Ghasemi Mohammad-Reza

Abstract excerpt

BACKGROUND: The ultra-rare autosomal recessive genetic disorder, You-Hoover-Fong Syndrome (YHFS), is caused by defects in the TELO2 gene and is characterized by intellectual disability, developmental delay, and ocular impairments. This study aims to contribute to a better understanding of YHFS by reviewing previous cases and introducing a novel variant in a new case. METHODS: Whole exome sequencing (WES) was...

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PMID: 38421525
DOI: 10.1007/s10072-024-07413-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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