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  • Title: Biochemical abnormalities in connective tissue of osteodysplasty of Melnick-Needles and dyssegmental dwarfism.
    Author: Svejcar J.
    Journal: Clin Genet; 1983 May; 23(5):369-75. PubMed ID: 6851229.
    Abstract:
    Biochemical findings in the connective tissue of two rare genetic skeletal dysplasias are reported. Osteodysplasty of Melnick-Needles showed an increased content of collagen; its increased synthesis may be the expression of the sclerosing process. In the neonatally lethal dyssegmental dwarfism, abnormal gel electrophoretic patterns of collagen peptides were found. These point to a deficiency in alpha 1-chains which may be the cause of an increase in cross-linking with a change in cleavage and extractibility of collagen.
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