Search Results - "Andrés Zayas, Cristina"

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    Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations by Suárez-González, Julia, Seidel, Verónica, Andrés-Zayas, Cristina, Izquierdo, Elvira, Buño, Ismael

    Published in BMC medical genomics (26-03-2021)
    “…Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy disorder. Many BBS disease-causing genetic variants have been identified due to the…”
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    Journal Article
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    Familial low phospholipid-associated cholelithiasis resulting from an autosomal dominant ABCB4 mutation by Buno, Ismael, Miranda-Bautista, Jose, Suarez-Gonzalez, Julia, Andres-Zayas, Cristina, Banares, Rafael

    “…Low phospholipid-associated cholelithiasis (LPAC) syndrome is characterized by early intrahepatic and symptomatic gallstones leading to cholangitis, acute…”
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    Journal Article
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