Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia-Reference-Cited by-同舟云学术

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

Published:2016-04-29 Issue:6 Volume:90 Page:509-517
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Thevenon J.¹²³^ORCID,Duplomb L.¹²,Phadke S.⁴,Eguether T.⁵,Saunier A.⁶,Avila M.¹²,Carmignac V.¹²,Bruel A.-L.¹²,St-Onge J.¹²⁷,Duffourd Y.¹²,Pazour G.J.⁵,Franco B.⁸⁹¹⁰,Attie-Bitach T.¹¹,Masurel-Paulet A.¹³,Rivière J.-B.¹²⁷,Cormier-Daire V.¹¹,Philippe C.⁶,Faivre L.¹²³,Thauvin-Robinet C.¹²³

Affiliation:

1. FHU-TRANSLAD; Université de Bourgogne/CHU Dijon; Dijon France

2. Equipe EA4271 GAD; Université de Bourgogne; Dijon France

3. Centre de Référence maladies rares “Anomalies du Développement et syndrome malformatifs” de l'Est et Centre de Génétique; Hôpital d'Enfants, CHU; Dijon France

4. Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences; Lucknow India

5. Program in Molecular Medicine; University of Massachusetts Medical School; Worcester MA USA

6. Laboratoire de Génétique Médicale; CHU - Hopitaux de Brabois; Vandoeuvre les Nancy cedex France

7. Laboratoire de Génétique Moléculaire, PTB; CHU Dijon; Dijon France

8. Telethon Institute of Genetics and Medicine; Naples Italy

9. Medical Genetics, Department of Medical Translational Sciences; University of Napoli Federico II; Naples Italy

10. Department of Medical Translational Sciences, Division of Pediatrics; Federico II University of Naples; Naples Italy

11. Service de Génétique, Hôpital Necker-Enfants Malades, APHP, Institut Imagine, INSERM UMR1163; University Sorbonne-Paris-Cité; Paris France

Funder

GIS-Institut des Maladies Rares

French Ministry of Health

Dijon University Hospital

Regional Council of Burgundy

Indian Council of Medical Research

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12785/fullpdf

Reference31 articles.

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3. Functional characterization of the OFD1 protein reveals a nuclear localization and physical interaction with subunits of a chromatin remodeling complex;Giorgio;Mol Biol Cell,2007

4. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes;Valente;Nat Genet,2010

5. Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX;Adly;Hum Mutat,2014

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