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Clinical Report of Bosma Arhinia Microphthalmia Syndrome with a New Variant on SMCHD1 Gene. A Case Report

Jose Atencia Goni, Maria Orera Clemente, Mariano Jose Del Valle Dieguez,Laura Gonzalez Fernandez,Olga Gonzalez Albarran

ENDOCRINOLOGIA DIABETES Y NUTRICION(2024)

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Key words
Genetic disorder,Hypogonadism,Growth disorders,Disorders of sexual development,Trastorno genético,Hipogonadismo,Trastornos del crecimiento,Trastornos del desarrollo sexual
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