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Jansen's metaphyseal chondrodysplasia (JMC) is a disease that results from ligand-independent activation of the type 1 of the parathyroid hormone receptor, due to one of three reported mutations (activating mutation). [1] JMC is extremely rare, and as of 2007 there are fewer than 20 reported cases worldwide.
Metaphyseal dysplasia, or Pyle disease, [3] is a disorder of the bones. It is a rare disease in which the outer part of the shafts of long bones is thinner than normal and there is an increased chance of fractures .
Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1. [2] [3] [4]Unlike other "rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels.
The Columbus Developmental Center (CDC) is a state-supported residential school for people with developmental disabilities, located in the Hilltop neighborhood of Columbus, Ohio.
Hereditary multiple osteochondromas (HMO), also known as hereditary multiple exostoses, is a disorder characterized by the development of multiple benign osteocartilaginous masses in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones.
The ground breaking for the hospital was July 10, 1984. It was completed January 16, 1990 but a water main break delayed the opening until July 9, 1990, when the first patient was admitted.The hospital treats cancer, and conducts research in the Solove Research Institute.
The office for Columbus Public Health is at 240 Parsons Avenue, in Olde Towne East and near Downtown Columbus. The main building was built as the Ohio Asylum for the Blind, and was constructed from 1869 to 1874, a long period due to an irregular scarcity of construction workers. It was built in response to a growing population and overcrowding ...
Phytohemagglutinin. CHH is an autosomal recessive [2] inherited disorder. It is a highly pleiotropic disorder. A rarely encountered genetic phenomenon, known as uniparental disomy (a genetic circumstance where a child inherits two copies of a chromosome from one parent, as opposed to one copy from each parent) has also been observed with the disorder.