Ijaz Anwar

Internal Medicine

735 Mapleton Ave
Middletown, DE 19709

Last Updated: 09/26/2026

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Found 3 publications

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 15, 2024

A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family.

A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family.

Journal: Ophthalmic genetics

Published: November 21, 2024

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.

Journal: Genes

Published: January 12, 2023

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Last Updated: 09/26/2026