Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

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Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

Author: Beyltjens, Tessi; Boudin, Eveline; Revencu, Nicole; Boeckx, Nele; Bertrand, Miriam; Schuetz, Leon; Haack, Tobias B.; Weber, Axel; Biliouri, Eleni; Vinksel, Mateja; Zagozen, Anja; Peterlin, Borut; Pai, Shashidhar; Telegrafi, Aida; Henderson, Lindsay B.; Ells, Courtney; Turner, Lesley; Wuyts, Wim; Van Hul, Wim; Hendrickx, Gretl; Mortier, Geert R.
Tübinger Autor(en):
Bertrand, Miriam
Schütz, Leon
Haack, Tobias
Published in: Journal of Medical Genetics (2023), Bd. 60, H. 5, S. 498-504
Verlagsangabe: Bmj Publishing Group
Language: English
Full text: http://dx.doi.org/10.1136/jmg-2022-108739
ISSN: 0022-2593
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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