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Keywords:  Calcium-sensing receptor
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Journal Articles
Journal: Neonatology
Neonatology (2013) 104 (2): 104–108.
Published Online: 28 June 2013
...Eduardo García Soblechero; María Teresa Ferrer Castillo; Belén Jiménez Crespo; María Luisa Domínguez Quintero; Concepción González Fuentes A neonate affected by a novel inactivating mutation in the calcium-sensing receptor (CASR) gene is presented. This mutation is homozygously inherited and has...