Associated Papers
Two Chinese Patients of Auriculocondylar Syndrome 2: A Novel PLCB4 Splicing Variant and 5-Year Follow-up.
Lin Y et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2025
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N et al.
Human Mutation, 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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