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
. 2000 Apr;37(4):318-20.
doi: 10.1136/jmg.37.4.318.

Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling

J Faber, A Winterpacht, B Zabel, W Gnoinski, A Schinzel, B Steinmann, A Superti-Furga
Case Reports

Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling

J Faber et al. J Med Genet. 2000 Apr.
No abstract available

PubMed Disclaimer