Disease: Craniofacial deafness hand syndrome
- A complex symphalangia syndrome with brachydactyly, humeroradial synostosis and other multiple joint dysplasias
- A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report
- A review of craniofacial disorders caused by spliceosomal defects
- Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation
- Are Melnick-Needles syndrome and oto-palato-digital syndrome type II allelic? Observations in a four-generation kindred
- Chromosome 11q13 deletion syndrome
- Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations
- Combined heart-skin disorders: the LEOPARD syndrome
- Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes
- Craniofacial-deafness-hand syndrome
- Craniofacial-deafness-hand syndrome revisited
- Disentangling the complex landscape of sleep-wake disorders with data-driven phenotyping: A study of the Bernese center
- DOOR syndrome: A case report and its embryological basis
- DOOR syndrome: deficiency of E1 component of the 2-oxoglutarate dehydrogenase complex
- DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome
- Freeman-Sheldon (whistling face) syndrome with hyperpyrexia in the newborn: case report
- Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes
- Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations
- Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome
- Multiple synostosis syndrome
- Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
- Myhre syndrome: Clinical features and restrictive cardiopulmonary complications
- Myhre syndrome: expanding its paediatric phenotypic spectrum
- Pax genes in embryogenesis and oncogenesis
- PAX3 gene deletion detected by microarray analysis in a girl with hearing loss
- PAX3 gene structure, alternative splicing and evolution
- PIGF deficiency causes a phenotype overlapping with DOORS syndrome
- Previously undescribed syndrome of craniofacial, hand anomalies, and sensorineural deafness
- Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24/sky-induced neurodegeneration
- Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?
- Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <em>DLX5/6</em> Genes
- The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons
- The genetic basis of DOORS syndrome: an exome-sequencing study
- Unresolved questions regarding human hereditary deafness
- Wide clinical spectrum in Zimmermann-Laband syndrome