Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B
Dong Li(Children's Hospital of Philadelphia), Michael A. Levine(Children's Hospital of Philadelphia), Cuiping Hou(Children's Hospital of Philadelphia), Garry R. Cutting(Johns Hopkins University), Maura Ruzhnikov(Lucile Packard Children's Hospital), Suzanne M. Jan de Beur(Johns Hopkins University), Molly B. Sheridan(Johns Hopkins University), Hilary Seeley(Lucile Packard Children's Hospital)
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