Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
出版年份 2012 全文链接
标题
Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
作者
关键词
-
出版物
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 158A, Issue 11, Pages 2719-2725
出版商
Wiley
发表日期
2012-07-21
DOI
10.1002/ajmg.a.35447
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
- (2012) Sonja A de Munnik et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The smallest teeth in the world are caused by mutations in the PCNT gene
- (2011) Piranit Kantaputra et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The shortest of the short: Pericentrin mutations and beyond
- (2011) Anita Rauch BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes
- (2011) Isabel Huang-Doran et al. DIABETES
- Mechanisms and pathways of growth failure in primordial dwarfism
- (2011) A. Klingseisen et al. GENES & DEVELOPMENT
- Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome
- (2011) Duane L Guernsey et al. NATURE GENETICS
- Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome
- (2011) Louise S Bicknell et al. NATURE GENETICS
- Mutations in the pre-replication complex cause Meier-Gorlin syndrome
- (2011) Louise S Bicknell et al. NATURE GENETICS
- Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA
- (2011) P. Edery et al. SCIENCE
- Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III
- (2010) Gordana Juric-Sekhar et al. ACTA NEUROPATHOLOGICA
- Majewski Osteodysplastic Primordial Dwarfism Type II (MOPD II): Expanding the vascular phenotype
- (2010) Michael B. Bober et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- United States Head Circumference Growth Reference Charts: Birth to 21 Years
- (2010) Jonathan D. Rollins et al. JOURNAL OF PEDIATRICS
- Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
- (2009) M. Willems et al. JOURNAL OF MEDICAL GENETICS
- Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations
- (2009) James S. Waldron et al. Journal of Neurosurgery-Pediatrics
- Mutations in the Pericentrin (PCNT) Gene Cause Primordial Dwarfism
- (2008) A. Rauch et al. SCIENCE
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