autosomal recessive - Robuta Search

https://pubmed.ncbi.nlm.nih.gov/26258614/

Characterization of an Early-Onset, Autosomal Recessive, Progressive Retinal Degeneration in Bengal...

A recessively inherited primary photoreceptor degeneration was characterized in the Bengal cat. The disease is characterized by early onset, with histologic,...

autosomal recessive retinal degeneration characterization early onset

https://pubmed.ncbi.nlm.nih.gov/15077201/

Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in...

Splice site mutations in the COL1A2 gene of type I collagen can give rise to forms of Ehlers-Danlos syndrome (EDS) because of partial or complete skipping of...

ehlers danlos syndrome autosomal recessive rare cardiac valvular

https://pubmed.ncbi.nlm.nih.gov/32603902/

A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic...

Complete STAT1 deficiency is a devastating disorder characterized by severe viral infections and ensuing hyperinflammatory responses. Early diagnosis can be...

autosomal recessive novel complete lof variant

https://pubmed.ncbi.nlm.nih.gov/28065471/

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

autosomal recessive cutis laxa mutations cause

https://pubmed.ncbi.nlm.nih.gov/26873851/

DJ-1/PARK7, But Not Its L166P Mutant Linked to Autosomal Recessive Parkinsonism, Modulates the...

Although mutations of DJ-1 have been linked to autosomal recessive Parkinsonism for years, its physiological function and the pathological mechanism of its...

dj mutant linked

https://pubmed.ncbi.nlm.nih.gov/16033917/

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

The P621T mutation of COL11A2 affects the Y position of the canonical -Gly-X-Y- repeat in collagens. It lies near the amino-terminus of the triple helical...

autosomal recessive hearing loss mutation causes non

https://pubmed.ncbi.nlm.nih.gov/17244376/

Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective...

Dilated cardiomyopathy as seen in children is clinically and genetically heterogeneous, with an increasing proportion of cases known to be caused by disorders...

autosomal recessive cardiac features novel dilated

https://pubmed.ncbi.nlm.nih.gov/22173095/

Reduced protein stability of human DJ-1/PARK7 L166P, linked to autosomal recessive Parkinson...

Parkinson's disease (PD) is characterized by dopaminergic dysfunction and degeneration. DJ-1/PARK7 mutations have been linked with a familial form of early...

protein stability reduced human dj linked