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Aim It was previously reported that several patients with pseudohypoparathyroidism type 1b (PHP-1b) have a more generalised imprinting defect. However there was no report that a patient of PHP-1a has any generalised imprinting defects. Here we aim to report a case of PHP-1a with hypomethylation at the Kv-differentially methylated region (DMR) (11p15.5), responsible for Beckwith-Wiedemann syndrome.

Pseudohypoparathyroidism type 1a with hypomethylation at the responsible differentially methylated region for Beckwith-Wiedemann syndrome