Article

Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults

2023-11-12

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in the X-linked endosomal Na+/H+ Exchanger 6 (NHE6) causes Christianson Syndrome (CS). In the largest study to date, we examine genetic diversity and clinical progression, including cerebellar degeneration, in CS into adulthood. Data were collected as part of the International Christianson Syndrome and NHE6 (SLC9A6) Gene Network Study. Forty-four individuals with 31 unique NHE6 mutation...

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Literature Corpus work: c6c54d0c-ffe0-55b6-b5a2-c20c5d09f4bf
DOI: 10.1101/2023.11.11.23298218

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