Characterization of a New Variant in IARHGAP31/I Probably Involved in Adams–Oliver Syndrome in a Fam...
Characterization of a New Variant in IARHGAP31/I Probably Involved in Adams–Oliver Syndrome in a Family with a Variable Phenotypic Spectrum
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Publisher
MDPI AG
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Language
English
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Publisher
MDPI AG
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Contents
Adams–Oliver syndrome is a rare inherited condition characterized by scalp defects and limb abnormalities. It is caused by variants in different genes such as ARHGAP31 . Here, we used an interdisciplinary approach to study a family with lower limb anomalies. We identified a novel variant in the ARHGAP31 gene that is predicted to result in a truncat...
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Full title
Characterization of a New Variant in IARHGAP31/I Probably Involved in Adams–Oliver Syndrome in a Family with a Variable Phenotypic Spectrum
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TN_cdi_gale_infotracmisc_A795401824
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_infotracmisc_A795401824
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ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes15050536
