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
A novel BICD2 mutation of a patient with Spinal Muscular Atrophy Lower Extremity Predominant 2.
Tumurkhuu M et al.
Intractable & Rare Diseases Research, 2021
The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy.
Koboldt DC et al.
Annals of Neurology, 2020
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Storbeck M et al.
European Journal of Human Genetics : Ejhg, 2017
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