Publications
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Author Title [ Year] Filters: Keyword is Mutation and Author is Connaughton, Dervla M [Clear All Filters]
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet 138, 1105-1115 (2019).
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet 107, 727-742 (2020).