A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity-Reference-Cited by-同舟云学术

A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity

Published:2015-05-01 Issue:9 Volume:167 Page:2042-2051
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Salpietro Vincenzo¹²,Ruggieri Martino³,Mankad Kshitij⁴,Di Rosa Gabriella⁵,Granata Francesca⁶,Loddo Italia²,Moschella Emanuela²,Calabro Maria Pia⁷,Capalbo Anna⁸,Bernardini Laura⁸,Novelli Antonio⁹,Polizzi Agata¹⁰¹¹,Seidler Daniela G.¹²,Arrigo Teresa²,Briuglia Silvana²

Affiliation:

1. Department of Paediatric Neurology; Chelsea and Westminster Hospital; London United Kingdom

2. Unit of Genetics and Paediatric Immunology; Department of Paediatrics, University of Messina; Messina Italy

3. Department of Clinical and Experimental Medicine; University of Catania; Catania Italy

4. Great Ormond Street Hospital for Children NHS Foundation Trust; London United Kingdom

5. Unit of Infantile Neuropsychiatry; Department of Paediatrics; University of Messina; Messina Italy

6. Unit of Neuroradiology, Department of Biomedical Sciences and Morpho-Functional Imaging; University of Messina; Messina Italy

7. Unit of Pediatric Cardiology; Department of Paediatrics; University of Messina; Messina Italy

8. Institute of Medical Genetics; “CSS-Mendel” Institute; Rome Italy

9. Bambino Gesù Children's Hospital; IRCCS; Rome Italy

10. Institute of Neurological Sciences; National Research Council; Catania Italy

11. National Centre for Rare Diseases; Istituto Superiore di Sanità; Rome Italy

12. Institute for Physiological Chemistry and Pathobiochemistry; University of Munster; Munster Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37118/fullpdf

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