Geleophysic dysplasia: A novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene

Geleophysic dysplasia: A novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene

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Bibliographic Details
Published in:American journal of medical genetics. Part A Vol. 167A; no. 8; pp. 1949 - 1951
Main Authors: García-Ortiz, Liliana, Gutiérrez-Salinas, José, del Carmen Chima Galán, María, García, Rosa Luz Romero, de la Concepción A. Yerena, María
Format: Journal Article
Language:English
Published: United States Blackwell Publishing Ltd 01-08-2015
Wiley Subscription Services, Inc
Subjects:
ADAM Proteins - genetics
ADAMTS Proteins
Adult
Bone Diseases, Developmental - genetics
Gene Deletion
Humans
Limb Deformities, Congenital - genetics
Male
Mutation
Tandem Repeat Sequences
Young Adult
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Description
Bibliography:istex:A029E788DCD5831FADB1F7F199E2C5966503A78D
Fondo Sectorial en Salud - No. Salud 2012-01-181582
ArticleID:AJMGA37106
ark:/67375/WNG-CRG4GQ3J-L
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37106