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 2015-08, Vol.167A (8), p.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: Article
Language:English
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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ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.37106