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Autosomal dominant osteoporosis
- ... condition. LRP5 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Childhood-onset primary osteoporosis Idiopathic juvenile osteoporosis Genetic Testing Registry: Bone mineral ...
- ... condition. NOTCH2 ... Acroosteolysis dominant type Acroosteolysis with osteoporosis and changes in skull and mandible Arthro-dento- ...
- ... LRP5 gene may influence the risk of developing osteoporosis in adulthood. ... dominant osteopetrosis type 1 and autosomal dominant osteosclerosis. In ...
- Williams Syndrome (Genetic and Rare Diseases Information Center)Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic Disorders/Specifics ... Genetic Disorders ... Genetic and Rare Diseases Information Center ...
- ... other genes, it can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant means one copy of the altered gene in ... for Rare Disorders (NORD) ClinicalTrials.gov DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1; DKCA1 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1 ...
- ... the ELANE gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered ... cause this condition are also inherited in an autosomal dominant pattern.When severe congenital neutropenia is caused by ...
- ... the CASR gene can cause a condition called autosomal dominant hypocalcemia type 1, which is characterized by low ... sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 2014 Feb;99( ...
- ... the FZD4 or LRP5 gene and has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ... sufficient to cause the disorder. Most people with autosomal dominant familial exudative vitreoretinopathy inherit the altered gene from ...
- Vision Impairment and Blindness (National Library of Medicine)What is vision impairment? Vision impairment is the loss of vision. It includes blindness, which means that you have lost all or most of your sight. It ...
- Mineral and Bone Disorder in Chronic Kidney Disease (National Institute of Diabetes and Digestive and Kidney Diseases)Kidney Failure/Related Issues ... Kidney Failure ... Parathyroid Disorders/Related Issues ... Parathyroid Disorders ... Dialysis/Related Issues ... Dialysis ... Chronic Kidney Disease/ ...