Associated Papers
Glucocorticoid treatment rescues early lethality in a mouse model of geleophysic dysplasia.
Morales AA et al.
Communications Biology, 2025
Dysregulation of cell migration by matrix metalloproteinases in geleophysic dysplasia.
Morales AA et al.
Scientific Reports, 2025
Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene.
Duzenli T et al.
Ophthalmic Genetics, 2024
National Rapid Genome Sequencing in Neonatal Intensive Care.
Marom D et al.
Jama Network Open, 2024
38386321 (PubMed )
Supplement: jamanetwopen-e240146-s002.xlsx › eTable_2
ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia.
Camarena V et al.
Jci Insight, 2024
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte D et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
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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