Case Reports in Genetics
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Case Reports in Genetics publishes case reports and case series focusing on diseases caused by hereditary predisposition or genetic variation in individuals and families.
Case Reports in Genetics
1M ago
Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes ..read more
Case Reports in Genetics
3M ago
Dilated cardiomyopathy with ataxia syndrome is a rare mitochondrial disease caused by autosomal recessive mutations in the ..read more
Case Reports in Genetics
3M ago
Chromothripsis is characterized by shattering and subsequent reassembly of chromosomes by DNA repair processes, which can give ..read more
Case Reports in Genetics
3M ago
Microrchidia CW-type zinc finger protein 2 (MORC2) is an ATPase-containing nuclear protein which regulates transcription ..read more
Case Reports in Genetics
3M ago
are the most common cause of hereditary spastic paraplegia (HSP), entitled spastic paraplegia ..read more
Case Reports in Genetics
4M ago
Concurrent microduplication and microdeletion of the chromosome 22q11.2 region are a rarely reported phenomenon. We describe a ..read more
Case Reports in Genetics
5M ago
Bromodomain and PHD finger containing 1 ( )-related neurodevelopmental disorder is characterized by intellectual ..read more
Case Reports in Genetics
6M ago
There is evidence that neurodevelopmental disorders are associated with chromosomal abnormalities ..read more
Case Reports in Genetics
6M ago
gene encodes megalin (LRP-2/GP330), a large single-spanning transmembrane glycoprotein that serves as a ..read more
Case Reports in Genetics
7M ago
Loss of expression of paternally imprinted genes in the 15q11.2-q13 chromosomal region leads to the neurodevelopmental ..read more