Genetics in Medicine Open (Jan 2023)
P136: Functional studies in ADAMTSL2-related geleophysic dysplasia provide insights into pathogenesis and potential treatment targets*
- Vladimir Camarena,
- Alejo Morales,
- Monique Williams,
- Mohammad Zafeer,
- Okan Kilic,
- Ali Kamiar,
- Monica Rasmuseen,
- LeShon Peart,
- Guney Bademci,
- Deborah Barbouth,
- Sarah Smithson,
- Lina Shehadeh,
- Gaofeng Wang,
- Katherina Walz,
- Mustafa Tekin
Affiliations
- Vladimir Camarena
- Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL
- Alejo Morales
- Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL
- Monique Williams
- Department of Medicine, Division of Cardiology and Interdisciplinary Stem Cell Institute, University of Miami Leonard M. Miller School of Medicine Miami. FL
- Mohammad Zafeer
- John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL
- Okan Kilic
- Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL
- Ali Kamiar
- Interdisciplinary Stem Cell Institute University of Miami Leonard M. Miller School of Medicine Miami, FL
- Monica Rasmuseen
- Department of Medical Education, University of Miami Miller School of Medicine, Miami, FL
- LeShon Peart
- Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL
- Guney Bademci
- Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL
- Deborah Barbouth
- Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL
- Sarah Smithson
- Department of Clinical Genetics, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK. Faculty of Health Sciences, University of Bristol, Bristol, UK
- Lina Shehadeh
- Department of Medicine, Division of Cardiology and Interdisciplinary Stem Cell Institute, University of Miami Leonard M. Miller School of Medicine Miami. FL
- Gaofeng Wang
- John P. Hussmann Institute for Human Genomics and Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, FL
- Katherina Walz
- Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL
- Mustafa Tekin
- Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussmann Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL
- Journal volume & issue
-
Vol. 1,
no. 1
p. 100165
