Add to ORKGThe differential diagnosis of optic atrophy and hearing loss includes genetic disorders such as Wolfram syndrome and dominant optic atrophy. We report two siblings with optic atrophy, sensorineural hearing loss, and sensory neuropathy with ataxia that were found to have heterozygous pathogenic mutations in SLC52A2, a riboflavin transporter gene that is associated with Brown-Vialetto-Van Laere (BVVL) syndrome
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial ne...
Brown-Vialetto-Van Laere syndrome, a rare neurological disorder is due to SLC52A3 mutations. Here, t...
Introduction: Alström Syndrome is a rare disease caused by mutations in ALMS1 gene. It is characteri...
Brown-Vialetto-Van-Laere syndrome (BVVL), is a rare autosomal recessive degenerative disorder, assoc...
Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial ne...
Brown-Vialetto-Van Laere syndrome (BVVLS) or riboflavin transporter deficiency (OMIM 211530) is a ra...
Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and c...
Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized...
PubMedID: 26444347Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare and severe neurometabolic dise...
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of diso...
The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages ...
The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder that may present at al...
Background: Brown-Vialetto-Van Laere (BVVL) syndrome is a rare disorder characterised by progressive...
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of diso...
The Brown–Vialetto–Van Laere syndrome (BVVL) is a rare disorder characterized by sensorineural deafn...
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial ne...
Brown-Vialetto-Van Laere syndrome, a rare neurological disorder is due to SLC52A3 mutations. Here, t...
Introduction: Alström Syndrome is a rare disease caused by mutations in ALMS1 gene. It is characteri...
Brown-Vialetto-Van-Laere syndrome (BVVL), is a rare autosomal recessive degenerative disorder, assoc...
Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial ne...
Brown-Vialetto-Van Laere syndrome (BVVLS) or riboflavin transporter deficiency (OMIM 211530) is a ra...
Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and c...
Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized...
PubMedID: 26444347Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare and severe neurometabolic dise...
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of diso...
The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages ...
The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder that may present at al...
Background: Brown-Vialetto-Van Laere (BVVL) syndrome is a rare disorder characterised by progressive...
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of diso...
The Brown–Vialetto–Van Laere syndrome (BVVL) is a rare disorder characterized by sensorineural deafn...
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial ne...
Brown-Vialetto-Van Laere syndrome, a rare neurological disorder is due to SLC52A3 mutations. Here, t...
Introduction: Alström Syndrome is a rare disease caused by mutations in ALMS1 gene. It is characteri...