Inas M. Sayed

Cairo, C, Egypt

Last Updated: 09/26/2026

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Found 16 publications

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

Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB -Related Neurodevelopmental Disorders.

Delineating the Clinical and Brain Imaging Characteristics of the Neonatal Form of CSTB -Related Neurodevelopmental Disorders.

Journal: Clinical genetics

Published: November 24, 2024

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

CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.

CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.

Journal: American journal of medical genetics. Part A

Published: December 06, 2022

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Journal: Genes

Published: May 12, 2022

A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.

A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.

Journal: Journal of human genetics

Published: April 25, 2022

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

Further Evidence of a Continuum in the Clinical Spectrum of Dominant PIEZO2-Related Disorders and Implications in Cerebellar Anomalies.

Journal: Molecular syndromology

Published: January 09, 2022

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.

Journal: Genes

Published: August 03, 2021

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.

Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.

Journal: American journal of medical genetics. Part A

Published: July 23, 2021

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

Expansion of the phenotypic and mutational spectrum of Carpenter syndrome.

Journal: European journal of medical genetics

Published: April 10, 2021

OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.

OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.

Journal: Journal of human genetics

Published: March 31, 2021

KBG syndrome in two patients from Egypt.

KBG syndrome in two patients from Egypt.

Journal: American journal of medical genetics. Part A

Published: October 25, 2019

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Last Updated: 09/26/2026