Report of a novel variant causing a schneckenbecken-like dysplasia

Quarrell, O.W., Rautengarten, C., Stals, K. et al. (9 more authors) (2019) Report of a novel variant causing a schneckenbecken-like dysplasia. In: European Journal of Human Genetics. 52nd European Society of Human Genetics (ESHG) Conference, 15-18 Jun 2019, Gothenburg, Sweden. Springer Nature , pp. 1298-1299.

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Authors/Creators:
Copyright, Publisher and Additional Information: © 2019 European Society of Human Genetics (ESHG).
Dates:
  • Published (online): 10 October 2019
  • Published: 10 October 2019
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Human Metabolism (Sheffield)
The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 21 Nov 2019 14:00
Last Modified: 21 Nov 2019 14:00
Status: Published
Publisher: Springer Nature
Refereed: Yes
Identification Number: https://doi.org/10.1038/s41431-019-0494-2
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