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Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

Human molecular genetics, 2015-09, Vol.24 (17), p.4775-4779

2015

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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Oncotarget, 2011-12, Vol.2 (12), p.1127-1133

2011

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Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

Human molecular genetics, 2019-05, Vol.28 (9), p.1578-1578

2019

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Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

American journal of human genetics, 2017-05, Vol.100 (5), p.725-736

2017

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Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Oncotarget, 2018-11, Vol.9 (94), p.36719-36719

2018

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EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome

American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.588-594

2019

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Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

American journal of human genetics, 2005-08, Vol.77 (2), p.193-204

2005

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Mutations in RNF135 , a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

Nature genetics, 2007-08, Vol.39 (8), p.963-965

2007

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Evaluation of NSD2 and NSD3 in overgrowth syndromes

European journal of human genetics : EJHG, 2005-02, Vol.13 (2), p.150-153

2005

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Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

Journal of medical genetics, 2005-04, Vol.42 (4), p.307-313

2005

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Genetics & Heredity
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Growth Disorders - Genetics
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Intracellular Signaling Peptides And Proteins - Genetics
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Nuclear Proteins - Genetics
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Abnormalities, Multiple - Genetics
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Amino Acid Sequence
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Ezh2
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Histone Methyltransferases
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Histone-Lysine N-Methyltransferase
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Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome

Genotype-Phenotype Associations in Sotos Syndrome: An Analysis of 266 Individuals with NSD1 Aberrations

Mutations in RNF135 , a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

Evaluation of NSD2 and NSD3 in overgrowth syndromes

Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome

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