• <em>FIG4</em>-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant
• A case of Yunis-Varon syndrome complicated with complete cleft lip and palate
• A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders
• A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia
• Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c
• Aplasia of the thumbs and great toes as the outstanding feature of Yunis and Varon syndrome. A new entity. A new observation
• Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Varon syndrome
• Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease
• Brief clinical report: the syndrome of Yunis and Varón--report of a further case
• Case report and literature review: Novel compound heterozygous <em>FIG4</em> variants causing both of peripheral and central nervous system defects
• Cerebral hypomyelination associated with biallelic variants of FIG4
• Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice
• Cleidocranial dysostosis, severe micrognathism, bilateral absence of thumbs and first metatarsal bone, and distal aphalangia: a new genetic syndrome
• Cleidocranial dysplasia with neonatal death due to central nervous system injury in utero: case report and literature review
• Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy
• CMT4J, parkinsonism and a new FIG4 mutation
• Congenital heart malformation in Yunis-Varon syndrome
• FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varon syndrome
• FIG4 regulates lysosome membrane homeostasis independent of phosphatase function
• FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant
• Fronto-otopalatodigital osteodysplasia: clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia
• Further delineation of the Yunis-Varon syndrome
• Generalized lysosomal storage in Yunis Varon syndrome
• Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders
• Hypodontia, impacted permanent teeth, spinal defects, and cardiomegaly in a previously diagnosed case of the Yunis-Varon syndrome
• Identification of Rpd3 as a novel epigenetic regulator of Drosophila FIG 4, a Charcot-Marie-Tooth disease-causing gene
• Knockdown of the Drosophila FIG4 induces deficient locomotive behavior, shortening of motor neuron, axonal targeting aberration, reduction of life span and defects in eye development
• Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy
• Mouse models of PI(3,5)P2 deficiency with impaired lysosome function
• New ocular findings in two sisters with Yunis-Varon syndrome and literature review
• Novel FIG4 mutations in Yunis-Varon syndrome
• Novel VAC14 variants identified in two Chinese siblings with childhood-onset striatonigral degeneration
• Primary pulmonary hypertension, congenital heart defect, central nervous system malformations, hypo- and aplastic toes: another case of Yunis-Varon syndrome or report of a new entity
• Protective role of the lipid phosphatase Fig4 in the adult nervous system
• Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4-Deficient Cells
• Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene
• Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria
• The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants
• The Yunis-Varon syndrome
• Yunis Varon syndrome
• Yunis-Varon syndrome
• Yunis-Varon syndrome
• Yunis-Varon Syndrome
• Yunis-Varon syndrome caused by biallelic VAC14 mutations
• Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase
• Yunis-Varon syndrome with severe osteodysplasty
• Yunis-Varon syndrome: a case report
• Yunis-Varon syndrome: evidence for a lysosomal storage disease
• Yunis-varon syndrome: further delineation of cardiovascular and endocrine outcome
• Yunis-Varon syndrome: further delineation of the phenotype
• Yunis-Varon syndrome: the first case of German origin
• Yunis-Varon syndrome: the first report of two Iranian cases