Sofia Douzgou
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 66 publications
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Journal: European journal of human genetics : EJHG
Published: September 10, 2024
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Journal: European journal of human genetics : EJHG
Published: January 30, 2024
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants.
Journal: Clinical genetics
Published: September 15, 2023
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly.
Journal: Clinical dysmorphology
Published: May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: November 23, 2022
FOXI3 pathogenic variants cause one form of craniofacial microsomia.
Journal: Nature communications
Published: April 09, 2022
Biallelic variants in CENPF causing a phenotype distinct from Strømme syndrome.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: January 31, 2022
Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
Journal: Human mutation
Published: December 20, 2021
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: December 11, 2021
Last Updated: 09/26/2026