Aziza M. Mushiba

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 22 publications

Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.

Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.

Journal: Research square
Published: February 27, 2026

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature.

Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature.

Journal: Clinical genetics
Published: January 24, 2026

POLG-related disorders: Clinical and molecular Spectrum in the Saudi population.

POLG-related disorders: Clinical and molecular Spectrum in the Saudi population.

Journal: Molecular genetics and metabolism reports
Published: January 18, 2026

A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis.

A novel homozygous CA5A gene deletion in carbonic anhydrase VA deficiency presenting as developmental delay without metabolic crisis.

Journal: Molecular genetics and metabolism reports
Published: December 03, 2025

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 24, 2025

Mutation of NDUFAF2 Linked to Mitochondrial Complex I Deficiency.

Mutation of NDUFAF2 Linked to Mitochondrial Complex I Deficiency.

Journal: Cureus
Published: June 23, 2025

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Journal: American journal of human genetics
Published: June 20, 2025

SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review.

SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review.

Journal: Clinical genetics
Published: June 01, 2025

Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia.

Recessive Loss of PI4K2A Function Causes a Developmental and Epileptic Dyskinetic Encephalopathy with Prominent Orolingual Dyskinesia.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: May 09, 2025

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Journal: Genome medicine
Published: April 24, 2025

Rabson-Mendenhall Syndrome Nearly Misdiagnosed as Type 1 Diabetes Mellitus: A Case Report.

Rabson-Mendenhall Syndrome Nearly Misdiagnosed as Type 1 Diabetes Mellitus: A Case Report.

Journal: Cureus
Published: March 25, 2025

Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15-A Novel Report.

Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15-A Novel Report.

Journal: Clinical case reports
Published: March 21, 2025
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Last Updated: 09/26/2026