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Rothmund-Thomson Syndrome (Syndrome, Rothmund-Thomson)

An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
Also Known As:
Syndrome, Rothmund-Thomson; Congenital Poikiloderma; Poikiloderma Atrophicans and Cataract; Poikiloderma Congenitale of Rothmund-Thomson; Poikiloderma of Rothmund-Thomson; Congenitale, Poikiloderma; Congenitales, Poikiloderma; Poikiloderma Congenitales; Poikiloderma of Rothmund Thomson; Rothmund Thomson Syndrome; Rothmund-Thomson Poikiloderma; Rothmund-Thomson Poikilodermas; Poikiloderma Congenitale
Networked: 84 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1. Werner Syndrome (Werner's Syndrome)
2. Progeria (Hutchinson Gilford Syndrome)
3. Cockayne Syndrome (Syndrome, Cockayne)
4. Down Syndrome (Down's Syndrome)
5. Ataxia (Dyssynergia)

Experts

1. Bohr, Vilhelm A: 9 articles (01/2020 - 09/2009)
2. Croteau, Deborah L: 8 articles (01/2020 - 09/2009)
3. Jin, Weidong: 4 articles (12/2021 - 01/2014)
4. Lu, Linchao: 4 articles (12/2021 - 01/2014)
5. Wang, Lisa L: 4 articles (12/2021 - 01/2014)
6. Balajee, Adayabalam S: 3 articles (01/2021 - 11/2010)
7. Plon, Sharon E: 3 articles (01/2019 - 04/2007)
8. Brosh, Robert M: 3 articles (04/2013 - 07/2005)
9. Furuichi, Yasuhiro: 3 articles (05/2012 - 04/2002)
10. Im, Jun-Sub: 2 articles (10/2021 - 01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Rothmund-Thomson Syndrome:
1. UbiquitinIBA
2. RecQ HelicasesIBA
3. Proteins (Proteins, Gene)FDA Link
4. DNA HelicasesIBA
5. DNA (Deoxyribonucleic Acid)IBA
6. Anaphase-Promoting Complex-Cyclosome Apc1 SubunitIBA
7. A-Form DNA (A-DNA)IBA
8. EnzymesIBA
9. 1,2- di- (4- sulfamidophenyl)- 4- butylpyrazolidine- 3,5- dione (DSB)IBA
10. Checkpoint Kinase 2IBA

Therapies and Procedures

1. Therapeutics
2. Chemoradiotherapy
3. Dye Lasers
4. Excimer Lasers
5. Cord Blood Stem Cell Transplantation