Geleophysic dysplasia and Weill–Marchesani syndrome: ADAMTSL2 a possible common gene
Author:
Affiliation:
1. Faculty of Medicine, Department of Medical Genetics, Gazi University, Ankara, Turkey
2. Faculty of Medicine, Department of Ophthalmology, Gazi University, Ankara, Turkey
Publisher
Informa UK Limited
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2358973
Reference51 articles.
1. Nosology of genetic skeletal disorders: 2023 revision
2. Marzin P, Cormier-Daire V. Geleophysic dysplasia. In: Adam M, Feldman J, Mirzaa G, Pagon R, Wallace S, Bean L, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington; 1993.
3. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
4. Marzin P, Cormier-Daire V, Tsilou E. Weill-Marchesani Syndrome. In: Adam M, Feldman J, Mirzaa G, Pagon R, Wallace S, Bean L, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington; 1993.
5. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome
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