Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

Erstveröffentlichung
2018
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Wissenschaftlicher Artikel


Authors
Meester, Josephina A. N.
Sukalo, Maja
Schroeder, Kim C.
Schanze, Denny
Baynam, Gareth
et al.
Institutions
UKU. Institut für Humangenetik
Published in
Human Mutation ; 39 (2018), 9. - S. 1246-1261. - ISSN 1059-7794. - eISSN 1098-1004
Link to publication
https://dx.doi.org/10.1002/humu.23567
Keywords
Adams-Oliver syndrome; genetics; mutation screening; Notch signaling; Rho GTPase; aplasia-cutis-congenita; of-function mutations; clinical phenotypes; missense mutations; limb defects; notch1; anomalies; variants; domains; association
Dewey Decimal Group
DDC 570 / Life sciences
DDC 610 / Medicine & health
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