Small patella syndrome: New clinical and molecular insights into a consistent phenotype.

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Serval ID
serval:BIB_1DB03E837D37
Type
Article: article from journal or magazin.
Collection
Publications
Institution
UNIL/CHUV
Title
Small patella syndrome: New clinical and molecular insights into a consistent phenotype.
Journal
Clinical genetics
Author(s)
Vanlerberghe C., Jourdain A.S., Dieux A., Toutain A., Callewaert B., Dupuis-Girod S., Unger S., Wright M., Isidor B., Ghoumid J., Petit F., Boutry N., Escande F., Manouvrier-Hanu S.
ISSN
1399-0004 (Electronic)
ISSN-L
0009-9163
Publication state
Published
Issued date
12/2017
Peer-reviewed
Oui
Volume
92
Number
6
Pages
676-678
Language
english
Notes
Publication types: Letter
Publication Status: ppublish
Keywords
Adolescent, Adult, Bone Diseases, Developmental/complications, Bone Diseases, Developmental/epidemiology, Bone Diseases, Developmental/genetics, Bone Diseases, Developmental/physiopathology, Child, Child, Preschool, Female, Hip/abnormalities, Hip/physiopathology, Hip Dislocation, Congenital/complications, Hip Dislocation, Congenital/epidemiology, Hip Dislocation, Congenital/genetics, Hip Dislocation, Congenital/physiopathology, Humans, Ischium/abnormalities, Ischium/physiopathology, Male, Middle Aged, Mutation, Patella/abnormalities, Patella/physiopathology, Pedigree, Phenotype, T-Box Domain Proteins/genetics, Young Adult
OAI-PMH
oai:serval.unil.ch:BIB_1DB03E837D37
DOI
10.1111/cge.13103
Pubmed
29120062
Web of science
000414920600018
Create date
22/11/2017 11:46
Last modification date
20/08/2019 13:54
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