Associated Papers
Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.
Zhang Y et al.
Molecular Genetics & Genomic Medicine, 2024
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.
Kanai SM et al.
Disease Models & Mechanisms, 2022
Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies.
Clouthier DE et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
Gordon CT et al.
Journal of Medical Genetics, 2013
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