A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fr...
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
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Author / Creator
Cuvertino, Sara , Hartill, Verity , Colyer, Alice , Garner, Terence , Nair, Nisha , Al-Gazali, Lihadh , Canham, Natalie , Faundes, Victor , Flinter, Frances , Hertecant, Jozef , Holder-Espinasse, Muriel , Jackson, Brian , Lynch, Sally Ann , Nadat, Fatima , Narasimhan, Vagheesh M. , Peckham, Michelle , Sellers, Robert , Seri, Marco , Montanari, Francesca , Southgate, Laura , Squeo, Gabriella Maria , Trembath, Richard , van Heel, David , Venuto, Santina , Weisberg, Daniel , Stals, Karen , Ellard, Sian , Barton, Anne , Kimber, Susan J. , Sheridan, Eamonn , Merla, Giuseppe , Stevens, Adam , Johnson, Colin A. and Banka, Siddharth
Publisher
Bethesda: Elsevier Limited
Journal title
Language
English
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Publication information
Publisher
Bethesda: Elsevier Limited
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More information
Scope and Contents
Contents
PurposeTo investigate if specific exon 38 or 39 KMT2D missense variants (MVs) cause a condition distinct from Kabuki syndrome type 1 (KS1).MethodsMultiple individuals, with MVs in exons 38 or 39 of KMT2D that encode a highly conserved region of 54 amino acids flanked by Val3527 and Lys3583, were identified and phenotyped. Functional tests were perf...
Alternative Titles
Full title
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome
Authors, Artists and Contributors
Author / Creator
Hartill, Verity
Colyer, Alice
Garner, Terence
Nair, Nisha
Al-Gazali, Lihadh
Canham, Natalie
Faundes, Victor
Flinter, Frances
Hertecant, Jozef
Holder-Espinasse, Muriel
Jackson, Brian
Lynch, Sally Ann
Nadat, Fatima
Narasimhan, Vagheesh M.
Peckham, Michelle
Sellers, Robert
Seri, Marco
Montanari, Francesca
Southgate, Laura
Squeo, Gabriella Maria
Trembath, Richard
van Heel, David
Venuto, Santina
Weisberg, Daniel
Stals, Karen
Ellard, Sian
Barton, Anne
Kimber, Susan J.
Sheridan, Eamonn
Merla, Giuseppe
Stevens, Adam
Johnson, Colin A.
Banka, Siddharth
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_journals_2475019784
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2475019784
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-019-0743-3
