Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism

CONTEXT: Primary hyperparathyroidism with hypercalciuria has not been described in the newborn period. OBJECTIVE: Our objectives are to identify the genetic basis for neonatal primary hyperparathyroidism in a family with 2 affected children. SUBJECTS: An African American boy presenting with mild neo...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Li, Dong, Tian, Lifeng, Hou, Cuiping, Kim, Cecilia E., Hakonarson, Hakon, Levine, Michael A.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2016
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4870850/
https://ncbi.nlm.nih.gov/pubmed/26963954
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2016-1211
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