Unmasking familial CPX by WES and identification of novel clinical signs-Reference-Cited by-同舟云学术

Unmasking familial CPX by WES and identification of novel clinical signs

Published:2018-11-21 Issue:12 Volume:176 Page:2661-2667
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Demeer Bénédicte¹²³^ORCID,Revencu Nicole¹⁴,Helaers Raphael¹,Devauchelle Bernard³⁵,François Geneviève⁶,Bayet Bénédicte⁷,Vikkula Miikka¹

Affiliation:

1. Human Molecular Genetics; de Duve Institute, University of Louvain; Brussels Belgium

2. Center for Human Genetics, CLAD nord de France; CHU Amiens-Picardie; Amiens France

3. EA CHIMERE; Université Picardie Jules Verne; Amiens France

4. Center for Human Genetics, Cliniques universitaires Saint-Luc; University of Louvain; Brussels Belgium

5. Department of Maxillofacial Surgery and Stomatology, centre de compétence fentes et malformations faciales MAFACE; CHU Amiens-Picardie; Amiens France

6. Department of Pediatrics, Cliniques universitaires Saint-Luc; University of Louvain; Brussels Belgium

7. Centre Labiopalatin, Division of Plastic Surgery, Cliniques universitaires Saint-Luc; University of Louvain; Brussels Belgium

Funder

Belgian Science Policy Office Interuniversity Attraction Poles

Genomics Platform of Université catholique de Louvain for Next Generation Sequencing, la Biobanque de Picardie

Région Hauts-de-France

Fonds De La Recherche Scientifique - FNRS

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40630/fullpdf

Reference31 articles.

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3. Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes;Basha;Journal of Medical Genetics,2018

4. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome;Basson;Nature Genetics,1997

5. The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia;Braybrook;Nature Genetics,2001

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