Associated Papers
Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking.
Piccolo P et al.
Molecular Genetics and Metabolism Reports, 2019
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.
Ben-Salem S et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2013
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Allali S et al.
Journal of Medical Genetics, 2011
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