Disease: Acrofacial dysostosis Rodriguez type
- <em>SF3B4</em> Frameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome
- Acrofacial dysostoses: review and report of a previously undescribed condition: the autosomal or X-linked dominant Catania form of acrofacial dysostosis
- Acrofacial dysostosis syndrome type Rodriguez: a new lethal MCA syndrome
- Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings
- Acrofacial dysostosis type RodrÃguez
- Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis
- Molecular mechanisms of hearing loss in Nager syndrome
- Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez
- Prenatal phenotype of Nager syndrome and Rodriguez syndrome: variable expression of the same entity?
- Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene
- Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia
- Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?
- The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature