Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome-Reference-Cited by-同舟云学术

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome

Published:2018-01-24 Issue:3 Volume:93 Page:632-639
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Niceta M.¹,Margiotti K.²³,Digilio M.C.¹,Guida V.³,Bruselles A.⁴,Pizzi S.¹,Ferraris A.³,Memo L.⁵,Laforgia N.⁶,Dentici M.L.¹^ORCID,Consoli F.³,Torrente I.³,Ruiz-Perez V.L.⁷⁸⁹,Dallapiccola B.¹,Marino B.¹⁰,De Luca A.³,Tartaglia M.¹^ORCID

Affiliation:

1. Genetics and Rare Diseases Research Division; Ospedale Pediatrico Bambino Gesù; Rome Italy

2. Department of Experimental Medicine; Policlinico Umberto 1, Università “Sapienza”; Rome Italy

3. Molecular Genetics Unit; Ospedale Casa Sollievo della Sofferenza, IRCCS; San Giovanni Rotondo Italy

4. Department of Oncology and Molecular Medicine; Istituto Superiore di Sanità; Rome Italy

5. Pediatric Unit; Ospedale San Martino; Belluno Italy

6. Department of Biomedical Science and Human Oncology; Università di Bari; Bari Italy

7. Department of Experimental Models of Human Diseases; Instituto de Investigaciones Biomédicas “Alberto Sols”, CSIC-UAM; Madrid Spain

8. CIBER de enfermedades Raras (CIBERER); ISCIII; València Spain

9. Instituto de Genética Médica y Molecular (INGEMM); Hospital Universitario La Paz; Madrid Spain

10. Department of Pediatrics; Università “Sapienza”; Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13128/fullpdf

Reference27 articles.

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2. Ellis-van Creveld syndrome;Baujat;Orphanet J Rare Dis,2007

3. Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia;Digilio;Am J Med Genet,1999

4. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases;Hills;Pediatr Cardiol,2011

5. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis;Ruiz-Perez;Nat Genet,2000

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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

2. Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome;European Journal of Human Genetics;2023-01-04

3. Ellis-Van Creveld Syndrome;Genetic Syndromes;2023

4. Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals;Journal of Medical Genetics;2022-08-04

5. Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2022-03