Srivastava, Siddharth

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders. [electronic resource] - Molecular genetics & genomic medicine 04 2019 - e00569 p. digital

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.

2324-9269

10.1002/mgg3.569 doi


Adult
Basic Helix-Loop-Helix Transcription Factors--genetics
Bone Morphogenetic Protein 4--genetics
Cells, Cultured
Craniofacial Abnormalities--genetics
Cyclic AMP Response Element-Binding Protein A--genetics
Hedgehog Proteins--genetics
Humans
Male
Mediator Complex--chemistry
X-Linked Intellectual Disability--genetics
Middle Aged
Mutation, Missense
Nerve Tissue Proteins--genetics
Pedigree
Protein Domains
Signal Transduction