We report three sibs born to a third degree consanguineous Indian family affected with Bartsocas Papas Syndrome. All the three pregnancies were complicated by severe oligohydramnios, which is not commonly seen with Bartsocas-Papas syndrome.
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[The role of RIPK4 in epidermis physiology].
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Proteins which regulate morphogenesis of the epidermis ensure its proper construction and function and mutations or abnormal expression of those proteins impact epidermal function. One recently described protein is Receptor Interacting Serine/Threonine Kinase 4 (RIPK4). Mutations in RIPK4 cause the autosomal-recessive form of Bartsocas-Papas syndrome and Popliteal Pterygium Syndrome the Aslan type.
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Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
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Introduction: Bartsocas-Papas syndrome (BPS) is an autosomal recessive form of Popliteal Pterygium syndrome (PPS). It is a very rare disease characterized by congenital craniofacial anomalies, popliteal webbing, and genitourinary and musculoskeletal anomalies. Almost all of the cases were reported in dead intrauterine pregnancies.
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Receptor-interacting protein kinase 4 (RIPK4) is a highly conserved regulator of epidermal differentiation. Members of the RIPK family possess a common kinase domain as well as unique accessory domains that likely dictate subcellular localization and substrate preferences. Mutations in human RIPK4 manifest as Bartsocas-Papas syndrome (BPS), a genetic disorder characterized by severe craniofacial and limb abnormalities.
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