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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Gepubliceerd in:Hum Mol Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Oxford University Press 2015
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Articles
Online toegang: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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