Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life

We present the first patient described with haploinsufficency of KMT2D leading to Kabuki syndrome. Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.[Image: see text]

Detalles Bibliográficos
Autores principales: Luperchio, Teresa Romeo, Applegate, Carolyn D., Bodamer, Olaf, Bjornsson, Hans Tomas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005614/
https://www.ncbi.nlm.nih.gov/pubmed/31814321
http://dx.doi.org/10.1002/mgg3.1072
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author Luperchio, Teresa Romeo
Applegate, Carolyn D.
Bodamer, Olaf
Bjornsson, Hans Tomas
author_facet Luperchio, Teresa Romeo
Applegate, Carolyn D.
Bodamer, Olaf
Bjornsson, Hans Tomas
author_sort Luperchio, Teresa Romeo
collection PubMed
description We present the first patient described with haploinsufficency of KMT2D leading to Kabuki syndrome. Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.[Image: see text]
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spelling pubmed-70056142020-02-13 Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life Luperchio, Teresa Romeo Applegate, Carolyn D. Bodamer, Olaf Bjornsson, Hans Tomas Mol Genet Genomic Med Letter to the Editor We present the first patient described with haploinsufficency of KMT2D leading to Kabuki syndrome. Deletion of KMT2D has been thought to be lethal, but here we describe a patient with KMT2D deletion and classical Kabuki syndrome phenotype.[Image: see text] John Wiley and Sons Inc. 2019-12-08 /pmc/articles/PMC7005614/ /pubmed/31814321 http://dx.doi.org/10.1002/mgg3.1072 Text en © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Letter to the Editor
Luperchio, Teresa Romeo
Applegate, Carolyn D.
Bodamer, Olaf
Bjornsson, Hans Tomas
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
title Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
title_full Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
title_fullStr Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
title_full_unstemmed Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
title_short Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life
title_sort haploinsufficiency of kmt2d is sufficient to cause kabuki syndrome and is compatible with life
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005614/
https://www.ncbi.nlm.nih.gov/pubmed/31814321
http://dx.doi.org/10.1002/mgg3.1072
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