WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature-Reference-Cited by-同舟云学术

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

Published:2019-05-03 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Brunelle Perrine¹,Jourdain Anne‐Sophie²³,Escande Fabienne²³,Martinovic Jelena⁴⁵,Dupont Juliette⁶,Busa Tiffany⁷^ORCID,Moncla Anne⁷,Frénois Frédéric³,Stichelbout Morgane³,Manouvrier‐Hanu Sylvie¹³,Petit Florence¹³^ORCID

Affiliation:

1. Clinique de Génétique Guy FontaineHôpital Jeanne de Flandre, CHU Lille Lille France

2. Laboratoire de Biochimie et Biologie MoléculaireCentre de Biologie Pathologie, CHU Lille Lille France

3. EA7364‐RADEME, Université de Lille Lille France

4. Unité de FoetopathologieAP‐HP, Hôpital Antoine Béclère Clamart France

5. INSERM U1169 Kremlin Bicêtre France

6. Serviço de Genética Departamento da Criança e da FamíliaHospital de Santa Maria Lisbon Portugal

7. Service de Génétique Clinique, Département de GénétiqueAP‐HM CHU Timone Enfants Marseille France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61177

Reference18 articles.

1. Novel homozygous mutations in the WNT10B gene underlying autosomal recessive split hand/foot malformation in three consanguineous families;Aziz A.;Gene,2014

2. Homozygous nonsense mutation in WNT10B and sporadic split‐hand/foot malformation (SHFM) with autosomal recessive inheritance;Blattner A.;American Journal of Medical Genetics. Part A,2010

3. Discrepancies in upper and lower limb patterning in split hand foot malformation;Elliott A. M.;Clinical Genetics,2005

4. Genetic regulatory pathways of split‐hand/foot malformation;Kantaputra P. N.;Clinical Genetics,2018

5. WNT10B mutations associated with isolated dental anomalies;Kantaputra P. N.;Clinical Genetics,2018

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Sequence Variants in the <i>WNT10B</i> Underlying Non-Syndromic Split-Hand/Foot Malformation;Molecular Syndromology;2023

2. Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report;Pan African Medical Journal;2021

3. Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation;Genetic Testing and Molecular Biomarkers;2020-09-01

4. Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations;Human Mutation;2019-09-23