Additional supporting information may be found in the online version of this article.

ajmg_34393_sm_SuppFig1.doc79KFig. 1: (a), Microsatellite analyses using two markers flanking GNAS (D20S100 and D20S171).Note that Patient 1 and Patient 2 had the identical haplotypes. (b), Pedigree of the family and the genotypes of D20S100. Asterisks show the affected allele inherited from the mother.
ajmg_34393_sm_SuppFig2.doc313KFig. 2: Methylation specific MLPA results for the probands and their mother. Patient 1 and Patient 2: Methylation defects at NESPAS, GNASXL and GNAS exon A/B. The mother: Methylation defect at NESP55.

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