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Title: Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations
Authors: Isrie, Mala
Wuyts, Wim
Van Esch, Hilde
Devriendt, Koenraad # ×
Issue Date: Jun-2014
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics A vol:164A issue:6 pages:1576-9
Article number: 10.1002/ajmg.a.36486
Abstract: Adams-Oliver syndrome (AOS; OMIM 100300) typically comprises a combination of congenital scalp defects and terminal transverse limb defects. Recently, mutations in ARHGAP31 and RBPJ have been found causing autosomal dominant forms of AOS. We describe a four-generation pedigree with isolated terminal limb defects and a truncating mutation in ARHGAP31. This finding underscores the relevance of sequencing ARHGAP31 in similar cases of isolated limb defects, irrespective of the presence of a complete AOS phenotype. We also highlight the variability of clinical features among mutation carriers, ranging from severe reduction defects to mild as well as clinically unaffected cases suggesting reduced penetrance. © 2014 Wiley Periodicals, Inc.
URI: 
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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