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Fig. 1 | Clinical Epigenetics

Fig. 1

From: Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance

Fig. 1

Genetic characterization of the three families under study. Pedigree and corresponding PADI6 variants of families 1 (a), 2 (b), and 3 (c). Black filled symbol represents individual with BWS features, and black central dot unaffected carriers of PADI6 variants. Weeks of gestation (gw) are reported for the aborted fetus in family 2. MLID status and the number of DMRs with altered methylation are also reported

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Clinical Epigenetics

ISSN: 1868-7083

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