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ENBartsocas-Papas Syndrome
Alias:
Autosomal Recessive Popliteal Pterygium Syndrome
Lethal Popliteal Pterygium Syndrome
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Bartsocas-Papas Syndrome, also known as autosomal recessive popliteal pterygium syndrome, is related to ankyloblepharon-ectodermal defects-cleft lip/palate and bartsocas-papas syndrome 1. An important gene associated with Bartsocas-Papas Syndrome is RIPK4 (Receptor Interacting Serine/Threonine Kinase 4). Affiliated tissues include skin and eye, and related phenotypes are synostosis of joints and microcephaly
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