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Article

Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).

American journal of medical genetics. Part A - 1 Apr 2018

Hirabayashi Kristin E, Moore Anthony T, Mendelsohn Bryce A, Taft Ryan J, Chawla Aditi, Perry Denise, Henry Duncan, Slavotinek Anne

Abstract excerpt

Congenital sodium diarrhea is a rare and life-threatening disorder characterized by a severe, secretory diarrhea containing high concentrations of sodium, leading to hyponatremia and metabolic acidosis. It may occur in isolation or in association with systemic features such as facial dysmorphism, choanal atresia, imperforate anus, and corneal erosions. Mutations in the serine protease inhibitor, Kunitz-Type 2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29575628
DOI: 10.1002/ajmg.a.38637
PMCID: PMC5875720

Genes

SPINT2

Provenance

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