Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly-Reference-Cited by-同舟云学术

Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly

Published:2021-07-23 Issue:12 Volume:185 Page:3831-3837
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

El Mouatani Ahmed¹^ORCID,Van Winckel Géraldine²^ORCID,Zaafrane‐Khachnaoui Khaoula³^ORCID,Whalen Sandra⁴^ORCID,Achaiaa Amale¹,Kaltenbach Sophie¹⁵^ORCID,Superti‐Furga Andrea²^ORCID,Vekemans Michel¹^ORCID,Fodstad Heidi²,Giuliano Fabienne²^ORCID,Attie‐Bitach Tania¹⁵^ORCID

Affiliation:

1. Service Histologie‐Embryologie‐Cytogénétique Hôpital Necker‐Enfants Malades, Assistance Publique – Hôpitaux de Paris Paris France

2. Service de Médecine Génétique Centre Hospitalier Universitaire Vaudois (CHUV) Lausanne Switzerland

3. Service de Génétique Médicale CHU de Nice, Hôpital de l'Archet II Nice France

4. Unité Fonctionnelle de Génétique Clinique Centre de Référence Maladies Rares Anomalies du développement et syndromes malformatifs, Hôpital Armand Trousseau, Assistance Publique – Hôpitaux de Paris Paris France

5. INSERM UMR 1163 Université de Paris, Imagine Institute Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62426

Reference21 articles.

1. Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families

2. GLI3-related polydactyly: a review

3. GLI3 is rarely implicated in OFD syndromes with midline abnormalities

4. The Greig cephalopolysyndactyly syndrome

Cited by 1 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. Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis;Journal of Medical Genetics;2024-03-26