Search Results - "Atencia Goñi, José"

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    Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report by Atencia Goñi, José, Orera Clemente, María, Del Valle Diéguez, Mariano José, González Fernández, Laura, González Albarrán, Olga

    Published in Endocrinología, diabetes y nutrición. (01-03-2024)
    “…The Bosma syndrome (BAMS: Bosma arhinia microphthalmia syndrome) is a condition first described in 1972. Since then, several reviews have published the cases…”
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    Journal Article