Disease: Acrofrontofacionasal dysostosis syndrome
- A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects
- A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: acro-fronto-facio-nasal dysostosis syndrome
- Acro-fronto-facio-nasal dysostosis: report of a new Brazilian family
- Acrofrontofacionasal dysostosis 1 in two sisters of Indian origin
- Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies
- Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report
- Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome?
- Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1
- Rare Diseases Leading to Childhood Glaucoma: Epidemiology, Pathophysiogenesis, and Management