Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia-Reference-Cited by-同舟云学术

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia

Published:2017-02-22 Issue:1 Volume:92 Page:91-98
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Barraza-García J.¹²³,Rivera-Pedroza C.I.¹³,Hisado-Oliva A.¹²³,Belinchón-Martínez A.¹²³,Sentchordi-Montané L.¹³⁴,Duncan E.L.⁵,Clark G.R.⁶,del Pozo A.¹²,Ibáñez-Garikano K.¹,Offiah A.⁷,Prieto-Matos P.⁸,Cormier-Daire V.⁹,Heath K.E.¹²³^ORCID

Affiliation:

1. Institute of Medical & Molecular Genetics (INGEMM); Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ; Madrid Spain

2. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER); Instituto Carlos III; Madrid Spain

3. Multidisciplinary Skeletal dysplasia Unit (UMDE); Hospital Universitario La Paz; Madrid Spain

4. Department of Pediatric Endocrinology; Hospital Universitario Infanta Leonor; Madrid Spain

5. Department of Endocrinology; Royal Brisbane and Women's Hospital; Herston Australia

6. Human Genetics Group, University of Queensland Diamantina Institute, Translational Research Institute; Princess Alexandra Hospital; Brisbane Australia

7. Radiology Department, Sheffield Children's Hospital NHS Foundation Trust and Academic Unit of Child Health; University of Sheffield; Sheffield UK

8. Pediatric Endocrinology Unit, Hospital Universitario de Salamanca; Instituto de Investigación Biomédica de Salamanca; Salamanca Spain

9. Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia; Paris Descartes-Sorbonne Paris Cité University, AP-HP, Institut Imagine and Hôpital Universitaire Necker-Enfants Malades; Paris France

Funder

Ministerio de Economía y Competitividad

Comunidad de Madrid (ENDOSCREEN)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12964/fullpdf

Reference41 articles.

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