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Quoted phrase not found in phrase index: "Ritscher-Schinzel syndrome 4"
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Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.
Kosaki K, Curry CJ, Roeder E, Jones KL. Kosaki K, et al. Am J Med Genet. 1997 Feb 11;68(4):421-7. doi: 10.1002/(sici)1096-8628(19970211)68:4<421::aid-ajmg10>3.0.co;2-u. Am J Med Genet. 1997. PMID: 9021015 Review.
Ritscher-Schinzel syndrome or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial defects. ...In our review of patients with vermis hypoplasia we ascertained a patient diagnosed as having "Joube …
Ritscher-Schinzel syndrome or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar ver …
Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate.
Bu H, Liu L, Hu S, Tan Z, Zhao T. Bu H, et al. Mol Med Rep. 2019 May;19(5):3831-3840. doi: 10.3892/mmr.2019.10043. Epub 2019 Mar 15. Mol Med Rep. 2019. PMID: 30896870
Targeted NGS results demonstrated that 10 patients (58.8%) carried gene mutations, including 4 (23.5%) genetically diagnosed cases and 6 (35.3%) cases with unknown etiology. The 4 known diseases were Opitz G/BBB syndrome caused by MID1 gene mutation, Loeys-Dietz syn …
Targeted NGS results demonstrated that 10 patients (58.8%) carried gene mutations, including 4 (23.5%) genetically diagnosed cases an …
Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome.
Rusnak AJ, Hadfield MI, Chudley AE, Marles SL, Reid GJ, Chodirker BN. Rusnak AJ, et al. Fetal Diagn Ther. 2008;24(4):395-9. doi: 10.1159/000165697. Epub 2008 Oct 28. Fetal Diagn Ther. 2008. PMID: 18957854
OBJECTIVE: The Ritscher-Schinzel syndrome (RSS), also known as the 3C syndrome, is an autosomal recessive disorder classically comprising craniofacial, cerebellar and cardiac defects. ...
OBJECTIVE: The Ritscher-Schinzel syndrome (RSS), also known as the 3C syndrome, is an autosomal recessive …
Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.
Wineland A, Menezes MD, Shimony JS, Shinawi MS, Hullar TE, Hirose K. Wineland A, et al. JAMA Otolaryngol Head Neck Surg. 2017 Feb 1;143(2):168-177. doi: 10.1001/jamaoto.2016.3175. JAMA Otolaryngol Head Neck Surg. 2017. PMID: 27832265
We tested 16 patients for mutations in the CHD7 gene; 10 were positive (63%) for mutations, 4 (25%) were negative, and 2 (13%) were inconclusive. CONCLUSIONS AND RELEVANCE: Semicircular canal anomalies were the most consistent finding in our patients with CHARGE syndrome. …
We tested 16 patients for mutations in the CHD7 gene; 10 were positive (63%) for mutations, 4 (25%) were negative, and 2 (13%) were i …