Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 1
1997 1
2020 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

3 results

Results by year

Filters applied: . Clear all
Page 1
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
Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians.
Marles SL, Chodirker BN, Greenberg CR, Chudley AE. Marles SL, et al. Am J Med Genet. 1995 May 8;56(4):343-50. doi: 10.1002/ajmg.1320560402. Am J Med Genet. 1995. PMID: 7604842 Review.
The parents and other sibs are clinically unaffected. We think these manifestations provide evidence for Ritscher-Schinzel syndrome in native Canadian children, and we have confirmed that ocular colobomas are a common occurrence in this disorder....
The parents and other sibs are clinically unaffected. We think these manifestations provide evidence for Ritscher-Schinzel
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
Assoum M, Bruel AL, Crenshaw ML, Delanne J, Wentzensen IM, McWalter K, Dent KM, Vitobello A, Kuentz P, Thevenon J, Duffourd Y, Thauvin-Robinet C, Faivre L. Assoum M, et al. Am J Med Genet A. 2020 Apr;182(4):792-797. doi: 10.1002/ajmg.a.61487. Epub 2020 Jan 18. Am J Med Genet A. 2020. PMID: 31953988 Review.
Here we describe three additional patients (from two unrelated families) with syndromic ID due to compound heterozygous KIAA1033 variants ascertained by exome sequencing (ES). Two sisters, aged 4 and 5.5 years, had a stop-gain and a missense variants, each inherited from o …
Here we describe three additional patients (from two unrelated families) with syndromic ID due to compound heterozygous KIAA1033 variants as …