Associated Papers
Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
Helm BM et al.
Human Genomics, 2017
28724397 (PubMed )
Supplement: 40246_2017_111_MOESM1_ESM.pdf
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