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Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
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Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome.
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DNA2 enables growth by restricting recombination-restarted replication.
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loss-of-function mutations cause microcephaly and short stature.
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The genetic basis of human height.
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DNA damage response regulator ATR licenses PINK1-mediated mitophagy.
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Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients.
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Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.
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E3 ligases: a ubiquitous link between DNA repair, DNA replication and human disease.
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Nuclear Chk1 prevents premature mitotic entry.
J Cell Sci. 2011 Jul 1;124(Pt 13):2113-9. doi: 10.1242/jcs.086488. Epub 2011 May 31.
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The Ras-ERK and PI3K-mTOR pathways: cross-talk and compensation.
Trends Biochem Sci. 2011 Jun;36(6):320-8. doi: 10.1016/j.tibs.2011.03.006. Epub 2011 Apr 30.
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Hippo pathway inhibits Wnt signaling to restrain cardiomyocyte proliferation and heart size.
Science. 2011 Apr 22;332(6028):458-61. doi: 10.1126/science.1199010.
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Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.
Science. 2011 Apr 8;332(6026):240-3. doi: 10.1126/science.1202205.
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Mechanisms limiting body growth in mammals.
Endocr Rev. 2011 Jun;32(3):422-40. doi: 10.1210/er.2011-0001. Epub 2011 Mar 25.
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IGF1 molecular anomalies demonstrate its critical role in fetal, postnatal growth and brain development.
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):181-90. doi: 10.1016/j.beem.2010.08.005.
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The shortest of the short: pericentrin mutations and beyond.
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):125-30. doi: 10.1016/j.beem.2010.10.015.
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Two sides of lifespan regulating genes: pro-longevity or anti-longevity?
J Biochem. 2011 Apr;149(4):381-8. doi: 10.1093/jb/mvr026. Epub 2011 Mar 3.

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