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Article

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

The Journal of clinical endocrinology and metabolism - 1 May 2016

Li Dong, Tian Lifeng, Hou Cuiping, Kim Cecilia E, Hakonarson Hakon, Levine Michael A

Abstract excerpt

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 neonatal primary hyperparathyroidism and hypercalciuria was evaluated at The Children's Hospital of Philadelphia. His...

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Identifiers

PMID: 26963954
DOI: 10.1210/jc.2016-1211
PMCID: PMC4870850

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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