Natural history and genotype-phenotype correlations in 72 individuals with SATB2 -associated syndrome
出版年份 2018 全文链接
标题
Natural history and genotype-phenotype correlations in 72 individuals with SATB2
-associated syndrome
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 176, Issue 4, Pages 925-935
出版商
Wiley
发表日期
2018-02-13
DOI
10.1002/ajmg.a.38630
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Clinical and molecular consequences of disease-associated de novo mutations in SATB2
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- Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exonSATB2frameshift mutation
- (2016) Philip M. Boone et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- SATB2-associated syndrome: Mechanisms, phenotype, and practical recommendations
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- SATB2-associated syndrome presenting with Rett-like phenotypes
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- Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis
- (2016) L. Basel-Vanagaite et al. CLINICAL GENETICS
- De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
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- Satb2 determines miRNA expression and long-term memory in the adult central nervous system
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- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Deletion of 14.7 Mb 2q32.3q33.3 with a marfanoid phenotype and hypothyroidism
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- Further delineation of the SATB2 phenotype
- (2013) Dennis Döcker et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence
- (2013) J. K. Rainger et al. HUMAN MOLECULAR GENETICS
- Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
- (2012) Michael E. Talkowski et al. CELL
- Toriello-Carey syndrome in a patient with ade novobalanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2
- (2009) DH Tegay et al. CLINICAL GENETICS
- SATB2 interacts with chromatin-remodeling molecules in differentiating cortical neurons
- (2008) Andrea B. Gyorgy et al. EUROPEAN JOURNAL OF NEUROSCIENCE
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