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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Figure 2

Molecular characterisation of patient 1. High density SNP chip array and CNV analysis identified a heterozygous de novo 4;6 reciprocal translocation that resulted in the deletion of four genes encoding sorting nexin-9 (SNX9), zinc finger DHHC-type containing 14 (ZDHHC14), transmembrane protein 242 (TMEM242) and AT rich interactive domain 1B (ARID1B) at 6q25.3.

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