Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half‐siblings-Reference-Cited by-同舟云学术

Short stature, unusual face, delta phalanx, and abnormal vertebrae and ribs in a girl born to half‐siblings

Published:2017-03-31 Issue:5 Volume:173 Page:1152-1158
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Pogue Robert¹,Marques Felipe A.¹²³⁴,Kopacek Cristiane⁵,Rosa Rosana C. M.⁶,Dorfman Luiza E.⁶⁷,Mazzeu Juliana F.⁸,Flores José A. M.⁹,Zen Paulo R. G.⁶¹⁰¹¹^ORCID,Rosa Rafael F. M.⁶¹⁰¹¹¹²

Affiliation:

1. Graduate Program in Genomic Sciences and BiotechnologyUniversidade Católica de BrasíliaBrasíliaDFBrazil

2. Biotechnology LaboratoryUniversidade CEUMASão LuisMABrazil

3. Department of BiomedicineUniversidade CEUMASão LuísMABrazil

4. Department of PharmacyUniversidade CEUMASão LuísMABrazil

5. Department of Pediatric EndocrinologyHospital Materno Infantil Presidente Vargas (HMIPV)Porto AlegreRSBrazil

6. Graduate Program in PathologyUniversidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA)Porto AlegreRSBrazil

7. Department of BiomedicineUniversidade do Vale do Rio dos Sinos (UNISINOS)São LeopoldoRSBrazil

8. Graduate Program in Medical SciencesUniversidade de BrasíliaBrasíliaBrazil

9. Department of Pediatric RadiologyHospital da Criança Santo Antônio (HCSA)Porto AlegreRSBrazil

10. Graduate Program in BiosciencesUniversidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) Porto AlegreRSBrazil

11. Department of Clinical GeneticsUFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA)Porto AlegreRSBrazil

12. Department of Clinical GeneticsHMIPVPorto AlegreRSBrazil

Funder

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Fundação de Apoio à Pesquisa do Distrito Federal

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38172

Reference23 articles.

1. Multiple osteochondromas

2. Mutations in the human Delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis

3. Delta phalanx

4. Clinical and genetic heterogeneity in Desbuquois dysplasia

5. Desbuquois dysplasia, a reevaluation with abnormal and ?normal? hands: Radiographic manifestations

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