B van Lier
Overview
Explore the profile of B van Lier including associated specialties, affiliations and a list of published articles.
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1
Citations
39
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Recent Articles
1.
Makrythanasis P, van Bon B, Steehouwer M, Rodriguez-Santiago B, Simpson M, Dias P, et al.
Clin Genet
. 2013 Jan;
84(6):539-45.
PMID: 23320472
Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort...