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Article

Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.

International journal of molecular sciences - 21 Dec 2023

Murtazina Aysylu, Borovikov Artem, Kuchina Anna, Ovsova Olga, Bulakh Maria, Chukhrova Alena, Braslavskaya Svetlana, Ryzhkova Oksana, Skryabin Nikolay, Kutsev Sergey, Dadali Elena

Abstract excerpt

The HOXB1 gene encodes a homeobox transcription factor pivotal in the development of rhombomere 4. Biallelic pathogenic variants in this gene are associated with congenital facial paresis type 3 (HCFP3). Only seven single nucleotide variants have been reported in the literature to date. Here, we report a 27-year-old female with a unique presentation of HCFP3 with two novel compound-heterozygous missense variants:...

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Identifiers

PMID: 38203298
DOI: 10.3390/ijms25010129
PMCID: PMC10779017

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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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