Disease: Toriello-Carey syndrome
- A case of Toriello-Carey syndrome with severe congenital tracheal stenosis
- A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q
- A Novel Pathogenic Variant in the <em>MN1</em> Gene in a Patient Presenting with Rhombencephalosynapsis and Craniofacial Anomalies, Expanding MN1 C-terminal Truncation Syndrome
- DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome
- Dental and dentofacial problems in a female child with Toriello-Carey -syndrome: changes in 3 years
- Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations
- Expanding the phenome and variome of skeletal dysplasia
- Further delineation of the Toriello-Carey syndrome: a report of two siblings
- New case of Toriello-Carey syndrome
- Pancreatic insufficiency in Toriello-Carey syndrome: report of a second patient
- Prenatal ultrasound diagnosis of Toriello-Carey syndrome
- Proximal Deletion of 6q Overlapping with Toriello-Carey Facial Phenotype: Prenatal Findings, Clinical Course, Differential Diagnosis, and Review
- Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2
- Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity
- Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others
- Toriello Carey syndrome: genetic, clinical, and oral considerations: a case report
- Toriello-Carey syndrome
- Toriello-Carey syndrome
- Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22)
- Toriello-Carey syndrome associated with respiratory failure and non-mechanical ileus
- Toriello-Carey syndrome in a patient with a de novo balanced translocation [46,XY,t(2;14)(q33;q22)] interrupting SATB2
- Toriello-Carey syndrome in a Turkish newborn
- Toriello-Carey syndrome phenotype and chromosome anomalies
- Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH
- Toriello-Carey syndrome with endocardial fibroelastosis
- Toriello-Carey syndrome: an additional case and summary of previously reported cases
- Toriello-Carey syndrome: case report with additional findings
- Toriello-Carey syndrome: delineation and review
- Toriello-Carey syndrome: evidence for X-linked inheritance
- Toriello-Carey syndrome: report of a new case
- Two siblings with midline field defects and Hirschsprung disease: variable expression of Toriello-Carey or new syndrome?
- Two sisters with Toriello-Carey syndrome
- Update on the Toriello-Carey syndrome