The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability-Reference-Cited by-同舟云学术

The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability

Published:2013-08-16 Issue:12 Volume:161 Page:3023-3029
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mehawej Cybel¹,Courcet Jean-Benoît²,Baujat Geneviève¹,Mouy Richard³,Gérard Marion⁴,Landru Isabelle⁵,Gosselin Morgane⁶,Koehrer Philippe⁷,Mousson Christiane⁸,Breton Sylvain⁹,Quartier Pierre³,Le Merrer Martine¹,Faivre Laurence²¹⁰,Cormier-Daire Valérie¹

Affiliation:

1. Département de génétique, INSERM U781; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades; Paris France

2. Service de Pédiatrie1 et de Génétique Médicale, Hôpital d'Enfants; Centre Hospitalo-Universitaire; Dijon France

3. Unité d'Immunologie Hématologie et Rhumatologie Pédiatrique, Institut Imagine; Hôpital Necker Enfants Malades, Assistance Publique des Hôpitaux de Paris; Paris France

4. Service de Génétique Médicale; Hôpital Clémenceau, Centre Hospitalo-Universitaire; Caen France

5. Service de Néphrologie; Centre Hospitalier; Lisieux France

6. Service de Néphrologie; Centre Hospitalo-Universitaire Pontchaillou; Rennes France

7. Service d'Ophtalmologie; Hôpital Général; Dijon France

8. Service de Néphrologie, Hôpital le Bocage; Centre Hospitalo-Universitaire; Dijon France

9. Service de Radiologie Pédiatrique; Hôpital Necker Enfants Malades; Paris France

10. Centre de Génétique et Centre de Référence Anomalies de Développement et Syndromes Malformatifs de l'interrégion Grand-Est; Hôpital d'Enfants, CHU; Dijon France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36151/fullpdf

Reference19 articles.

1. Carpal and tarsal osteolysis. A case report and review of the literature;Beals;J Bone Joint Surg Am,1975

2. Nephropathy of idiopathic multicentric osteolysis;Bennett;Nephron,1980

3. An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome;Dworschak;Int J Mol Med,2013

4. Carpal-tarsal osteolysis;Erickson;J Pediatr,1978

5. Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis;Faber;Eur J Pediatr,2004

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