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Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)

Figure 2

Germline NLRP2 mutation.

The alignments of NLRP2 nucleotides c.1465–c.1492 are shown. (A) is wildtype sequence in a control, (B) is heterozygous NLRP2 mutation (c.1479delAG) in the father, and (C) is homozygous 2bp deletion (c.1479delAG) in the mother.

Figure 2

doi: https://doi.org/10.1371/journal.pgen.1000423.g002