Preferential Maternal Transmission of STX16‐GNAS Mutations Responsible for Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B): Another Example of Transmission Ratio Distortion
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DOI: 10.1002/jbmr.4221
Abstract: Preferential transmission of a genetic mutation to the next generation, referred to as transmission ratio distortion (TRD), is well established for several dominant disorders, but underlying mechanisms remain undefined. Recently, TRD was reported for patients… read more here.
Keywords: transmission; stx16 gnas; pseudohypoparathyroidism type; mutation ... See more keywords