Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms
about
De novo microduplication of CHL1 in a patient with non-syndromic developmental phenotypesMutation spectra of histone methyltransferases with canonical SET domains and EZH2-targeted therapy.An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.The H3K4 methyltransferase Setd1b is essential for hematopoietic stem and progenitor cell homeostasis in mice.
P2860
Microdeletion of 12q24.31: Report of a girl with intellectual disability, stereotypies, seizures and facial dysmorphisms
description
im November 2014 veröffentlichter wissenschaftlicher Artikel
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scientific article published on 26 November 2014
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wetenschappelijk artikel
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наукова стаття, опублікована в листопаді 2014
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name
Microdeletion of 12q24.31: Rep ...... izures and facial dysmorphisms
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Microdeletion of 12q24.31: Rep ...... izures and facial dysmorphisms
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type
label
Microdeletion of 12q24.31: Rep ...... izures and facial dysmorphisms
@en
Microdeletion of 12q24.31: Rep ...... izures and facial dysmorphisms
@nl
prefLabel
Microdeletion of 12q24.31: Rep ...... izures and facial dysmorphisms
@en
Microdeletion of 12q24.31: Rep ...... izures and facial dysmorphisms
@nl
P2093
P2860
P356
P1476
Microdeletion of 12q24.31: rep ...... izures and facial dysmorphisms
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P2093
Leopoldo Zelante
Matteo Crisetti
Orazio Palumbo
Pietro Palumbo
Raffaella Stallone
Teresa Palladino
P2860
P304
P356
10.1002/AJMG.A.36872
P407
P577
2014-11-26T00:00:00Z