Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability-Reference-Cited by-同舟云学术

Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability

Published:2016-01-11 Issue:4 Volume:170 Page:986-991
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Scheps Karen G.¹²,Francipane Liliana³,Nevado Julián⁴⁵,Basack Nora⁶,Attie Myriam⁶,Bergonzi María Fernanda³,Cerrone Gloria E.¹²,Lapunzina Pablo⁴⁵,Varela Viviana¹²

Affiliation:

1. Cátedra de Genética; Facultad de Farmacia y Bioquímica; Universidad de Buenos Aires; Ciudad de Buenos Aires Argentina

2. INIGEM (Instituto de Inmunología, Genética y Metabolismo); CONICET- Universidad de Buenos Aires; Ciudad de Buenos Aires Argentina

3. División Genética; Hospital de Clínicas “José de San Martín”; Universidad de Buenos Aires; Ciudad de Buenos Aires Argentina

4. INGEMM (Instituto de Genética Médica y Molecular); Hospital Universitario La Paz-IdiPaz; Universidad Autónoma de Madrid; Madrid Spain

5. CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras); Madrid; Spain

6. División Hematología; Hospital de Niños “Dr. Ricardo Gutiérrez”; Ciudad de Buenos Aires Buenos Aires Argentina

Funder

UBACyT

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37532/fullpdf

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