A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome-Reference-Cited by-同舟云学术

A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with marden-walker syndrome

Published:2013-07-25 Issue:9 Volume:161 Page:2281-2290
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Carrascosa-Romero María Carmen¹,Suela Javier²,Pardal-Fernández José Manuel³,Bermejo-Sánchez Eva⁴⁵⁶,Vidal-Company Alberto⁷,MacDonald Alexandra⁵,Tébar-Gil Roque⁸,Martínez-Fernández María Luisa⁵⁶,Martínez-Frías María Luisa⁵⁶⁹

Affiliation:

1. Neurología Neonatal. Servicio de Pediatría; Complejo Hospitalario Universitario de Albacete; Albacete Spain

2. NIMGenetics (New Integrated Medical Genetics); Madrid Spain

3. Neurofisiología. Servicio de Pediatría; Complejo Hospitalario Universitario de Albacete; Albacete Spain

4. Instituto de Investigación de Enfermedades Raras (IIER); Instituto de Salud Carlos III; Ministerio de Economía y Competitividad; Madrid Spain

5. Spanish Collaborative Study of Congenital Malformations (ECEMC); CIAC (Research Center on Congenital Anomalies); Instituto de Salud Carlos III; Madrid Spain

6. CIBER de Enfermedades Raras (CIBERER); Instituto de Salud Carlos III; Ministerio de Economía y Competitividad; Madrid Spain

7. Nefrología pediátrica. Servicio de Pediatría; Complejo Hospitalario Universitario de Albacete; Albacete Spain

8. Jefe del Servicio de Pediatría; Complejo Hospitalario Universitario de Albacete; Albacete Spain

9. Departamento de Farmacología; Facultad de Medicina; Universidad Complutense de Madrid. Ministerio de Educación; Cultura y Deporte; Madrid Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35862/fullpdf

Reference23 articles.

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5. Monosomy 21q22.11-q22.13 presenting as a Fanconi anemia phenotype;Byrd;Am J Med Gen,2011

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3. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance;The American Journal of Human Genetics;2019-07

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