Chromatinopathies study table

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Last updated 12:14 AM on 7/17/26
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13 Terms

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Syndrome 1

Cornelia De Lange

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Syndrome 2

Rubinstein-Taybi

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Syndrome 3

Kabuki

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Syndrome 4

B-cell Lymphoma

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Cornelia De Lange Affected Gene/Protein

Cohesin subunits (NIPBL, SMC1A, RAD21)

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Rubinstein-Taybi Affected Gene/Protein

p300 or CBP

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Kabuki Affected Gene/Protein

MLL4 (KMT2D) or UTX

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B-cell Lymphoma Affected Gene/Protein

H1 coding genes

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Cornelia De Lange Molecular Mechanism

Mutations in architectural regulator

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Rubinstein-Taybi Molecular Mechanism

Haploinsufficiency of HATs

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Kabuki Molecular Mechanism

Mutations in epigenetic writers

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B-cell Lymphoma Molecular Mechanism

Disrupted global histone landsca