TY - GEN AU - Srivastava,Siddharth AU - Niranjan,Tejasvi AU - May,Melanie M AU - Tarpey,Patrick AU - Allen,William AU - Hackett,Anna AU - Jouk,Pierre-Simon AU - Raymond,Lucy AU - Briault,Slyvain AU - Skinner,Cindy AU - Toutain,Annick AU - Gecz,Jozef AU - Heath,William AU - Stevenson,Roger E AU - Schwartz,Charles E AU - Wang,Tao TI - Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders SN - 2324-9269 PY - 2019///0521 KW - Adult KW - Basic Helix-Loop-Helix Transcription Factors KW - genetics KW - Bone Morphogenetic Protein 4 KW - Cells, Cultured KW - Craniofacial Abnormalities KW - Cyclic AMP Response Element-Binding Protein A KW - Hedgehog Proteins KW - Humans KW - Male KW - Mediator Complex KW - chemistry KW - X-Linked Intellectual Disability KW - Middle Aged KW - Mutation, Missense KW - Nerve Tissue Proteins KW - Pedigree KW - Protein Domains KW - Signal Transduction N1 - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S UR - https://doi.org/10.1002/mgg3.569 ER -