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
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Vegas N et al.
Human Mutation, 2022
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.
Kanai SM et al.
Disease Models & Mechanisms, 2022
Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.
Peart LS et al.
American Journal of Medical Genetics. Part A, 2022
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Romanelli Tavares VL et al.
American Journal of Medical Genetics. Part A, 2017
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
Gordon CT et al.
Journal of Medical Genetics, 2013
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