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

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

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.

Affiliation

Vanlerberghe C; Department of Clinical Genetics, CHU Lille, France.
Jourdain AS; Université Lille, EA7364 RADEME, Lille, France.
Dieux A; Université Lille, EA7364 RADEME, Lille, France.
Toutain A; Department of Molecular genetics, CHU Lille, France.
Callewaert B; Department of Clinical Genetics, CHU Lille, France.
Dupuis-Girod S; Department of Genetics, CHU Tours, France.
Unger S; Department of Clinical Genetics, UZ Gent, Belgium.
Wright M; Department of Clinical Genetics, Groupement Hospitalier Est, Bron, France.
Isidor B; Department of Genetic Medicine, CHU Vaudois, Lausanne, Switzerland.
Ghoumid J; Institute of Genetic Medicine, International Centre for Life, Newcastle, UK.
Petit F; Department of Clinical Genetics, Hôpital Mère et Enfant, CHU Nantes, France.
Boutry N; Department of Clinical Genetics, CHU Lille, France.
Escande F; Université Lille, EA7364 RADEME, Lille, France.
Manouvrier-Hanu S; Department of Clinical Genetics, CHU Lille, France.

Clin Genet ; 92(6): 676-678, 2017 12.

Article in En | MEDLINE | ID: mdl-29120062

Subject(s)

Bone Diseases, Developmental/genetics; Hip Dislocation, Congenital/genetics; Hip/abnormalities; Ischium/abnormalities; Patella/abnormalities; T-Box Domain Proteins/genetics; Adolescent; Adult; Bone Diseases, Developmental/complications; Bone Diseases, Developmental/epidemiology; Bone Diseases, Developmental/physiopathology; Child; Child, Preschool; Female; Hip/physiopathology; Hip Dislocation, Congenital/complications; Hip Dislocation, Congenital/epidemiology; Hip Dislocation, Congenital/physiopathology; Humans; Ischium/physiopathology; Male; Middle Aged; Mutation; Patella/physiopathology; Pedigree; Phenotype; Young Adult

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Patella / Bone Diseases, Developmental / T-Box Domain Proteins / Hip / Hip Dislocation, Congenital / Ischium Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Language: En Journal: Clin Genet Year: 2017 Type: Article Affiliation country: France

Fulltext

XML

PubMed Links

Search on Google