Associated Papers
Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder.
Yahia A et al.
Human Genetics, 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
Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.
Bukowska-Olech E et al.
Journal of Applied Genetics, 2021
A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity.
Nabil A et al.
European Journal of Medical Genetics, 2020
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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