Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
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Tucci A, et al. Among authors: malandrini a.
Hum Mutat. 2013 Feb;34(2):296-300. doi: 10.1002/humu.22241. Epub 2012 Nov 27.
Hum Mutat. 2013.
PMID: 23086778
Free PMC article.