TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation-Reference-Cited by-同舟云学术

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation

Published:2018-10-26 Issue:12 Volume:176 Page:2813-2818
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Lemattre C.¹,Thevenon J.²³,Duffourd Y.²⁴⁵⁶,Nambot S.²,Haquet E.¹,Vuadelle B.⁷,Genevieve D.¹,Sarda P.¹,Bruel A. L.²,Kuentz P.²⁸^ORCID,Wells C. F.¹,Faivre L.²⁶^ORCID,Willems M.¹^ORCID

Affiliation:

1. Département de Génétique Médicale; Hôpital Arnaud de Villeneuve; Montpellier France

2. Equipe GAD, UMR1231; Université de Bourgogne Franche Comté; Dijon France

3. Département de Génétique et Procréation; Hôpital Couple-Enfant, CHU; Grenoble France

4. Orphanomix, SATT Grand Est; Dijon France

5. UF Innovation en Diagnostic Génomique des Maladies Rares; Centre Hospitalier Universitaire de Dijon; Dijon France

6. Centre de Référence Anomalies du Développement et Syndromes Malformatifs et FHU TRANSLAD; Hôpital d’enfants, CHU; Dijon France

7. Lycée Philippe Lamour; Nîmes France

8. Laboratoire de Biologie Moléculaire; CHRU Saint-Jacques; Besançon France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40510/fullpdf

Reference25 articles.

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3. Pierpont syndrome : A collaborative study;Burkitt-Wright;American Journal of Medical Genetics, Part A,2011

4. Wnt/beta-catenin signaling:Turning the switch;Cadigan;Developmental Cell,2008

5. Recurrent mutations of MYD88 and TBL1XR1 in primary central nervous system lymphomas;Gonzalez-Aguilar;Clinical Cancer Research,2012

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