Fig. 1From: Frequency of KCNQ1 variants causing loss of methylation of Imprinting Centre 2 in Beckwith-Wiedemann syndromeSequencing results of the family with the donor splice site variant in intron 1 of the KCNQ1 gene. The patient and the patient’s mother carry the splice site variant in intron 1 of KCNQ1 (NM_000218.2(KCNQ1):c.386+1G>T). The patient is diagnosed with BWS due to IC2 LOM. The mother and the brother of the patient are healthyBack to article page