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ENMckusick-Kaufman Syndrome (MKKS)
Alias:
Kaufman-Mckusick Syndrome
Hydrometrocolpos, Postaxial Polydactyly, and Congenital Heart Malformation
Hydrometrocolpos-Postaxial Polydactyly Syndrome
Mkks
Hmcs
Hydrometrocolpos Syndrome
Kaufman Mckusick Syndrome
Mckusick Kaufman Syndrome
Mks
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Mckusick-Kaufman Syndrome, also known as kaufman-mckusick syndrome, is related to polydactyly, postaxial, type a1 and heart disease. An important gene associated with Mckusick-Kaufman Syndrome is MKKS (MKKS Centrosomal Shuttling Protein), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include heart and uterus, and related phenotypes are hydrometrocolpos and cryptorchidism
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