Severe infantile obesity with a maternal GNAS deletion and multi-locus imprinting disturbance including hypomethylation of the KCNQ1OT1:TSS-DMR
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Genetic defects in GNAS on the maternal allele cause pseudohypoparathyroidism type 1A (PHP1A) with PTH resistance. Beckwith-Wiedemann syndrome (BWS) is an overgrowth syndrome caused by aberrant methylation in the KCNQ1OT1:transcription start site (TSS)-differe... ...
