Rasha M. Elhossini

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 21 publications

Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva.

Monoallelic variants in ACVR1 in a cohort of Egyptian individuals with fibrodysplasia ossificans progressiva.

Journal: Clinical dysmorphology

Published: August 28, 2025

Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.

Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.

Journal: Scientific reports

Published: April 17, 2025

COL1-related overlap disorder: An emerging phenotype linked to mono- and bi-allelic COL1A1/2 variants.

COL1-related overlap disorder: An emerging phenotype linked to mono- and bi-allelic COL1A1/2 variants.

Journal: Archives of oral biology

Published: January 25, 2025

Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia.

Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia.

Journal: Journal of human genetics

Published: December 03, 2024

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.

Journal: European journal of human genetics : EJHG

Published: November 01, 2024

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Journal: Brain communications

Published: July 02, 2024

A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease).

A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease).

Journal: Archives of oral biology

Published: April 11, 2024

Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature.

Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature.

Journal: Journal, genetic engineering & biotechnology

Published: March 17, 2024

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Journal: Journal of medical genetics

Published: July 28, 2023

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

Journal: Molecular neurobiology

Published: June 01, 2023

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.

A recurrent KCNK4 variant in a dominant pedigree with hypertrichosis and gingival fibromatosis syndrome: Variable phenotypic expressivity and insights on patients' dental management.

Journal: American journal of medical genetics. Part A

Published: May 10, 2023

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.

Brachyolmia, dental anomalies and short stature (DASS): Phenotype and genotype analyses of Egyptian and Pakistani patients.

Journal: Heliyon

Published: April 14, 2023

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Last Updated: 09/26/2026