Associated Papers
Expanding association between BICD2 variants and brain malformations and associated lissencephaly.
Cho J et al.
Clinical and Experimental Pediatrics, 2024
A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia.
Abdel-Salam GMH et al.
Journal of Human Genetics, 2022
Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy.
Marchionni E et al.
American Journal of Medical Genetics. Part A, 2021
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC et al.
Annals of Neurology, 2020
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Koboldt DC et al.
Cold Spring Harbor Molecular Case Studies, 2018
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