CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
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Mougou-Zerelli S, et al. Among authors: szenker e.
Hum Mutat. 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116.
Hum Mutat. 2009.
PMID: 19777577
Free PMC article.