Associated Papers
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.
Kanai SM et al.
Disease Models & Mechanisms, 2022
Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.
Bukowska-Olech E et al.
Journal of Applied Genetics, 2021
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
Gordon CT et al.
Journal of Medical Genetics, 2013
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
Rieder MJ et al.
American Journal of Human Genetics, 2012
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