Case Reports in Genetics : Impact Factor & More

Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein-Barr Virus.

Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia.

Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation.

Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome.

A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder.

Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India.

Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein-Barr Virus.

Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia.

Constitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation.

Genital Abnormalities and Growth Retardation as Early Signs of Dilated Cardiomyopathy with Ataxia Syndrome.

A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder.

Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India.