ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

Miles–Carpenter syndrome (MCS) was described in 1991 as an XLID syndrome with fingertip arches and contractures and mapped to proximal Xq. Patients had microcephaly, short stature, mild spasticity, thoracic scoliosis, hyperextendable MCP joints, rocker-bottom feet, hyperextended elbows and knees. A...

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Published in:Hum Mol Genet
Main Authors: May, Melanie, Hwang, Kyu-Seok, Miles, Judith, Williams, Charlie, Niranjan, Tejasvi, Kahler, Stephen G., Chiurazzi, Pietro, Steindl, Katharina, Van Der Spek, Peter J., Swagemakers, Sigrid, Mueller, Jennifer, Stefl, Shannon, Alexov, Emil, Ryu, Jeong-Im, Choi, Jung-Hwa, Kim, Hyun-Taek, Tarpey, Patrick, Neri, Giovanni, Holloway, Lynda, Skinner, Cindy, Stevenson, Roger E., Dorsky, Richard I., Wang, Tao, Schwartz, Charles E., Kim, Cheol-Hee
Format: Artigo
Language:Inglês
Published: Oxford University Press 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4527488/
https://ncbi.nlm.nih.gov/pubmed/26056227
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv208
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