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Paper Details

Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.
Am J Med Genet A
37
2013
Arg270Cys, B4GALT7, B4GALT7 deficiency, Ehlers-Danlos syndrome, Leu41Pro, bowing of the extremities, c, c., c.122T>C, c.808C>T, developmental anomalies of, growth disorder, growth disorders, p.Arg270Cys, p.Leu41Pro, patient, progeroid, short stature, skeletal dysplasia
Author NameAffiliation
Michael H GuoHarvard Medical School
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Release 1.2