Results 1 -
10
of
10
for
Autosomal recessive inheritance
- ... is characterized by progressive vision loss and an autosomal recessive inheritance pattern. Autosomal recessive inheritance means affected individuals have ...
- ... both copies of the gene in each cell (autosomal recessive inheritance pattern).A small number of people with limb- ...
- ... a disorder of tooth development called amelogenesis imperfecta. Autosomal recessive inheritance means that two copies of the MMP20 gene ...
- ... many parts of the body, particularly the bones. Autosomal recessive inheritance means both copies of the gene in each ...
- ... the disorder, which is known as Becker disease. Autosomal recessive inheritance means two copies of the gene in each ...
- ... condition caused by ZNF341 gene mutations follows an autosomal recessive pattern of inheritance, which means both copies of the gene must ...
- ... SLC4A1 gene mutations cause both autosomal dominant and autosomal recessive forms of SLC4A1-associated distal renal tubular acidosis. ... the correct part of the cell membrane. In autosomal recessive SLC4A1-associated distal renal tubular acidosis, both copies ...
- ... HTRA1 gene have been found to cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known ... Oct 19. Citation on PubMed Fukutake T. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from ...
- ... Gallin JI, Stasia MJ. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood ...
- ... Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies. Hum Mutat. ...
