Article
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.
American journal of human genetics - 3 Sept 2015
Meester Josephina A N, Southgate Laura, Stittrich Anna-Barbara, Venselaar Hanka, Beekmans Sander J A, den Hollander Nicolette, Bijlsma Emilia K, Helderman-van den Enden Appolonia, Verheij Joke B G M, Glusman Gustavo, Roach Jared C, Lehman Anna, Patel Millan S, de Vries Bert B A, Ruivenkamp Claudia, Itin Peter, Prescott Katrina, Clarke Sheila, Trembath Richard, Zenker Martin, Sukalo Maja, Van Laer Lut, Loeys Bart, Wuyts Wim
Abstract excerpt
Adams-Oliver syndrome (AOS) is a rare developmental disorder characterized by the presence of aplasia cutis congenita (ACC) of the scalp vertex and terminal limb-reduction defects. Cardiovascular anomalies are also frequently observed. Mutations in five genes have been identified as a cause for AOS prior to this report. Mutations in EOGT and DOCK6 cause autosomal-recessive AOS, whereas mutations in ARHGAP31,...
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