Journal article
Identification of mutations in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia
- Abstract:
-
Burn-McKeown syndrome (BMKS) is a rare syndrome characterized by choanal atresia, prominent ears, abnormalities of the outer third of the lower eyelids, cardiac abnormalities, hearing loss, and unilateral cleft lip. Recently, compound heterozygous mutations were identified in TXNL4A.
We analyzed a subject with clinical features of BMKS and her parents by whole genome sequencing and also identified compound heterozygous mutations in TXNL4 (a novel splice site mutation (c.25...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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Funding
Bibliographic Details
- Publisher:
- Nature Publishing Group Publisher's website
- Journal:
- European Journal of Human Genetics Journal website
- Volume:
- 25
- Issue:
- 2017
- Pages:
- 1126–1133
- Publication date:
- 2017-07-26
- Acceptance date:
- 2017-05-03
- DOI:
- EISSN:
-
1476-5438
- ISSN:
-
1018-4813
Item Description
- Keywords:
- Pubs id:
-
pubs:698527
- UUID:
-
uuid:0a67fd7e-fb5a-41eb-b69e-f380b1dc5d75
- Local pid:
- pubs:698527
- Deposit date:
- 2017-06-06
Terms of use
- Copyright holder:
- © 2017 Goos, et al
- Copyright date:
- 2017
- Notes:
- This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
- Licence:
- CC Attribution (CC BY)
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