Significados de link recessive em inglês

We report a family with an X- linked recessive disorder characterized by muscle cramps and myalgia.

Two obligate carrier females showed either normal or borderline intelligence, simulating an X- linked recessive trait.

The complex glycerol kinase deficiency (GKD) syndrome is an X- linked recessive genetic disorder.

We have identified a large multigenerational Austrian family displaying a novel form of X- linked recessive myopathy.

Purpose: Lowe syndrome is a rare, X- linked recessive disorder caused by mutations in the OCRL gene.

Juvenile retinoschisis is an inherited macular dystrophy that is transmitted in the chromosome X- linked recessive mode.

Hemophilia B is an X- linked recessive bleeding disorder caused by abnormalities in the coagulation factor IX gene.

In few cases mutations in the EDA gene have been found to result in X- linked recessive isolated hypodontia.

Menkes disease is an X- linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to profound copper deficiency.

The Wiskott-Aldrich syndrome (WAS) is an X- linked recessive genetic disease in which the basic molecular defect is unknown.

Mutations in these previously described genes are responsible for the so-called X- linked recessive diseases such as hemophilia and Duchenne muscular dystrophy.

Aims: To report a clinical and genetic investigation of a southern Chinese family with X- linked recessive exudative vitreoretinopathy and vitreous hemorrhage.

Hunter syndrome (mucopolysaccharidosis type II) is a rare and life-limiting multisystemic disorder with an X- linked recessive pattern of inheritance.

Adrenoleukodystrophy (ALD) is an X- linked recessive disorder that affects mainly the nervous system white matter and the adrenal cortex.

Menkes disease is a severe X- linked recessive disorder caused by a defect in the ATP7A gene, which encodes a membrane copper-transporting ATPase.

Mutations in more than a hundred genes have been reported to cause X- linked recessive intellectual disability (ID) mainly in males.