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
Case Reports
. 2021 Jan;30(1):58-61.
doi: 10.1097/MCD.0000000000000346.

Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge

Etienne J M Janssen  1 , Alexander P A Stegmann  2 , Constance T R M Stumpel  2
Affiliations
Case Reports

Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge

Etienne J M Janssen et al. Clin Dysmorphol. 2021 Jan.
No abstract available

PubMed Disclaimer

References

    1. Acke FR, Malfait F, Vanakker OM, Steyaert W, De Leeneer K, Mortier G, et al. Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing. Mol Genet Metab. 2014; 113:230–235
    1. Ala-Kokko L, Shanske AL. Mosaicism in Marshall syndrome. Am J Med Genet A. 2009; 149A:1327–1330
    1. Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, et al. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet. 1999; 65:974–983
    1. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012; 367:1921–1929
    1. Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML. Marshall syndrome associated with a splicing defect at the COL11A1 locus. Am J Hum Genet. 199810.1086/301789 - DOI

Publication types

MeSH terms

Substances

Supplementary concepts

LinkOut - more resources