Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.
Mol Genet Genomic Med
| Authors | |
| Abstract | 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. |
| Year of Publication | 2020
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| Journal | Mol Genet Genomic Med
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| Volume | 8
|
| Issue | 2
|
| Pages | e1072
|
| Date Published | 2020 Feb
|
| ISSN | 2324-9269
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| DOI | 10.1002/mgg3.1072
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| PubMed ID | 31814321
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| PubMed Central ID | PMC7005614
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| Links | |
| Grant list | WT_ / Wellcome Trust / United Kingdom
Louma G Foundation
195835-051 / Icelandic Research Fund
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