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Autosomal recessive osteoporosis 8
- ... IMAGe association: additional clinical features and evidence for recessive autosomal inheritance. Horm Res. 2002;57 Suppl 2:71-8. doi: 10.1159/000058105. Citation on PubMed Pedreira ...
- ... Exp Ophthalmol. 2006 Sep-Oct;34(7):682-8. doi: 10.1111/j.1442-9071.2006.01314.x. Citation on PubMed Jiao X, Ventruto V, Trese MT, Shastry BS, Hejtmancik JF. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in ...
- ... lysine may contribute to the short stature and osteoporosis seen in people with lysinuric protein intolerance. However, the ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... genetic material, usually from chromosome 7 or chromosome 8, in some of an affected person's cells. Researchers ... This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ...
- ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show ... Aronson NN Jr. Aspartylglycosaminuria: biochemistry and molecular biology. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):139-54. doi: 10.1016/ ...
- ... the HAX1 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
- ... can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant means one copy of the ... each cell is sufficient to cause the disorder. Autosomal recessive means both copies of the gene in each ...
- ... severity. GNPTAB This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... cell. GNPTG This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
- ... unknown. MMP2 This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
