Article
Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.
American journal of medical genetics. Part A - 1 Oct 2013
Guo Michael H, Stoler Joan, Lui Julian, Nilsson Ola, Bianchi Diana W, Hirschhorn Joel N, Dauber Andrew
Abstract excerpt
Proteoglycans are a component of the extracellular matrix and are critical for cellular and tissue function. Mutations in proteoglycan components and enzymes involved in proteoglycan synthesis have been implicated in several growth disorders, with common features including short stature and skeletal dysplasia. For example, mutations in B4GALT7, a gene whose protein product catalyzes proteoglycan synthesis, have...
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