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Endocrinología, Diabetes y Nutrición (English ed.)
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Review article
Clinical report of Bosma arhinia microphthalmia syndrome with a new variant on SMCHD1 gene. A case report
Informe clínico de un caso con síndrome de Bosma Arhinia Microftalmia con una nueva variante en el gen SMCHD1. A propósito de un caso
José Atencia Goñia,
Corresponding author
joseatenciagoni@hotmail.com

Corresponding author.
, María Orera Clementeb, Mariano José Del Valle Diéguezc, Laura González Fernándeza, Olga González Albarrána
a Department of Endocrinology and Nutrition, HGU Gregorio Marañón, Madrid, Spain
b Department of Genetics, HGU Gregorio Marañón, Madrid, Spain
c Department of Radiology, HGU Gregorio Marañón, Madrid, Spain
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ISSN: 25300180
Original language: English
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