Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients-Reference-Cited by-同舟云学术

Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients

Published:2017-11-14 Issue:12 Volume:173 Page:3136-3142
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Lehalle Daphné¹²^ORCID,Altunoglu Umut³,Bruel Ange-Line¹,Arnaud Eric⁴,Blanchet Patricia⁵,Choi Jong-Woo⁶,Désir Julie⁷,Kiliç Esra⁸,Lederer Damien⁷,Pinson Lucile⁵,Thauvin-Robinet Christel¹²,Singer Amihood⁹,Thevenon Julien¹²,Callier Patrick¹,Kayserili Hulya³¹⁰,Faivre Laurence¹²^ORCID

Affiliation:

1. Equipe GAD; INSERM LNC UMR 1231; Faculté de Médecine; Université de Bourgogne Franche-Comté; Dijon France

2. Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est; Centre Hospitalier Universitaire Dijon; Dijon France

3. Department of Medical Genetics; Istanbul Medical Faculty; Istanbul University; Istanbul Turkey

4. Service de Neurochirurgie; Hôpital Necker; Paris France

5. Genetic Departement for Rare Disease and Personalised Medicine; Clinical Division; CHU Montpellier; Montpellier France

6. Department of Plastic & Reconstructive Surgery; College of Medicine, University of Ulsan, Seoul Asan Medical Center; Seoul South Korea

7. Center for Human Genetics; Institut de Pathologie et Génétique (I.P.G.); Gosselies Belgium

8. Pediatric Genetics; Pediatric Hematology Oncology Research & Training Hospital; Ankara Turkey

9. Pediatrics and Medical Genetics; Barzilai Medical Center; Ashkelon Israel

10. Department of Medical Genetics; Koç University School of Medicine (KUSoM); Zeytinburnu, İstanbul Turkey

Funder

Regional Council of Burgundy

TUBİTAK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference24 articles.

1. Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome;Bhoj;American Journal of Medical Genetics Part A,2015

2. Bifid nose with cleft hand deformity: Syndromic association or undescribed anomaly;Cole;Journal of Craniofacial Surgery,2008

3. Frontonasal dysplasia: Towards an understanding of molecular and developmental aetiology;Farlie;Molecular Syndromol,2016

4. Vertebrate limb bud formation is initiated by localized epithelial-to-mesenchymal transition;Gros;Science,2014

5. Frontonasal dysplasia, Poland anomaly and unilateral hypoplasia of lower limb: Report on a male patient;Guion-Almeida;Clinical Dysmorphol,2003

Cited by 11 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. Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review;BMC Pregnancy and Childbirth;2024-06-10

2. Structural Rhinoplasty as an Effective Surgical Approach for Frontonasal Dysplasia;Journal of Craniofacial Surgery;2024-05-06

3. Two novel mutations within FREM1 gene in patients with bifid nose;BMC Pediatrics;2023-12-14

4. Cleft 1/13;Facial Reconstruction of Unusual Facial Clefts;2023

5. Mechanisms, Etiology, and Classification of Rare Clefts;Facial Reconstruction of Unusual Facial Clefts;2023