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

Details

Request a copyRequest a copy
Serval ID
serval:BIB_4C1B098123F7
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Production externe
Title
Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counselling.
Journal
Journal of Medical Genetics
Author(s)
Faber J., Winterpacht A., Zabel B., Gnoinski W., Schinzel A., Steinmann B., Superti-Furga A.
ISSN
0022-2593 (Print)
ISSN-L
0022-2593
Publication state
Published
Issued date
2000
Volume
37
Number
4
Pages
318-320
Language
english
Notes
Publication types: Case Reports ; Letter ; Research Support, Non-U.S. Gov't
Keywords
Child, Preschool, Collagen/genetics, Collagen Diseases/genetics, Collagen Diseases/physiopathology, Exons/genetics, Female, Flatfoot/etiology, Humans, Mutation, Retrognathism/etiology, Syndrome
Pubmed
10819645
Web of science
000086453000019
Create date
14/03/2011 17:14
Last modification date
20/08/2019 15:00
Usage data