Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)
Figure 2
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.