ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons
M May, KS Hwang, J Miles, C Williams… - Human molecular …, 2015 - academic.oup.com
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 mutation, p. L66H, in ZC4H2, was identified in a
XLID re-sequencing project. Additional screening of linked families and next generation
sequencing of XLID families identified three ZC4H2 mutations: p. R18K, p. R213W and p …
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 mutation, p. L66H, in ZC4H2, was identified in a
XLID re-sequencing project. Additional screening of linked families and next generation
sequencing of XLID families identified three ZC4H2 mutations: p. R18K, p. R213W and p …
[引用][C] ZC4H2, an XLID Gene, is Required for the Generation of a Specific Subset of CNS Interneurons
김현택 - 2015 - scholarworks.bwise.kr
… Keywords ZC4H2; CNS interneurons; zebrafish … Certain data included herein are derived
from the © Web of Science of Clarivate Analytics. All rights reserved. You may not copy or
re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics. …
from the © Web of Science of Clarivate Analytics. All rights reserved. You may not copy or
re-distribute this material in whole or in part without the prior written consent of Clarivate Analytics. …
以上显示的是最相近的搜索结果。 查看全部搜索结果