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Article

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

Annals of neurology - 1 Oct 2014

Pescosolido Matthew F, Stein David M, Schmidt Michael, El Achkar Christelle Moufawad, Sabbagh Mark, Rogg Jeffrey M, Tantravahi Umadevi, McLean Rebecca L, Liu Judy S, Poduri Annapurna, Morrow Eric M

Abstract excerpt

OBJECTIVE: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na(+) /H(+) exchanger 6 (NHE6). We aimed to determine the diagnostic criteria and mutational spectrum for CS. METHODS: Twelve independent pedigrees (14 boys, age = 4-19 years) with mutations in NHE6 were administered standardized research assessments, and mutations were characterized. RESULTS: The...

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Identifiers

PMID: 25044251
DOI: 10.1002/ana.24225
PMCID: PMC4304796

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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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