Significats de recessive disease en anglès

We report a male patient with type II autosomal recessive disease.

The second hypothesis assumes a recessive disease susceptibility gene in linkage disequilibrium with DRB1.

RTD may be acquired during foetal development or inherited as an autosomal recessive disease.

Over 1200 recessive disease genes have been described in humans.

In addition to carrier mutations, we identified homozygous and hemizygous deletions potentially causative for recessive disease.

However, patients showed a fivefold enrichment of genes with two such mutations that could underlie recessive disease.

The role of consanguinity and the risk of autosomal recessive disease were discussed and genetic counseling was given.

Usher syndrome is a genetically heterogeneous recessive disease characterized by hearing loss and retinitis pigmentosa (RP).

We identified 3212 heterozygous potential carrier deletions affecting 419 unique recessive disease genes.

We provide further evidence that CNVs contribute to the allelic architecture of both carrier and recessive disease-causing mutations.

Cystic fibrosis (CF) is the most common lethal autosomal recessive disease in Caucasians, but rare in Asians.

Fanconi anemia is a rare autosomal recessive disease characterized by multiple congenital abnormalities, bone marrow failure, and cancer susceptibility.

Background: Familial Mediterranean fever is an autosomal- recessive disease characterized by acute attacks of fever with sterile peritonitis, pleurisy, or synovitis.

Possible factors responsible for this hypersensitivity are discussed and comparisons drawn with ataxia telangiectasia, another autosomal recessive disease characterized by enhanced X-ray sensitivity.

Finally, 45% of our patients with unsolved causes had single deleterious mutations in ABCA4, a recessive disease gene.

Absence of heterozygosity consistent with identity-by-descent mediated recessive disease burden contributes to molecular diagnosis in 15 of 16 (94%) families.