Disease: Craniosynostosis- anal anomalies- and porokeratosis
- Biallelic variants in RNU12 cause CDAGS syndrome
- CDAGS syndrome (craniostenosis, deafness, anal abnormalities and genitourinary malformations with skin rash)
- Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review
- Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities (CDAGS syndrome): first report in a Mexican patient and review of the literature
- Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome
- JAAD Grand Rounds. Annular plaques and craniosynostosis
- Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes