Associated Papers
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature.
Brugnoli C et al.
American Journal of Medical Genetics. Part A, 2025
Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect.
Pinard A et al.
Molecular Biology Reports, 2018
A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family.
Vahidi Mehrjardi MY et al.
Molecular Syndromology, 2017
A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.
Sahin Y et al.
Brain & Development, 2017
Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.
Vogel M et al.
American Journal of Medical Genetics. Part A, 2016
Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
MacKinnon S et al.
Ophthalmology, 2014
Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.
Rucker JC et al.
Brain : a Journal of Neurology, 2014
Human HOX gene disorders.
Quinonez SC et al.
Molecular Genetics and Metabolism, 2014
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant].
Schröder JC et al.
Behavioral and Brain Functions : Bbf, 2013
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.
Webb BD et al.
American Journal of Human Genetics, 2012
A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.
Uyguner ZO et al.
European Journal of Medical Genetics, 0
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