Rothmund-Thomson Syndrome
"Rothmund-Thomson Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D011038
|
| MeSH Number(s) |
C16.131.831.775 C16.320.850.765 C16.614.760 C17.800.804.775 C17.800.827.775 C18.452.284.760
|
| Concept/Terms |
Rothmund-Thomson Syndrome- Rothmund-Thomson Syndrome
- Rothmund Thomson Syndrome
- Syndrome, Rothmund-Thomson
- Poikiloderma Congenitale of Rothmund-Thomson
- Poikiloderma Atrophicans and Cataract
- Congenital Poikiloderma
- Poikiloderma Congenitale
- Congenitale, Poikiloderma
- Congenitales, Poikiloderma
- Poikiloderma Congenitales
- Poikiloderma of Rothmund-Thomson
- Poikiloderma of Rothmund Thomson
- Rothmund-Thomson Poikiloderma
- Rothmund-Thomson Poikilodermas
|
Below are MeSH descriptors whose meaning is more general than "Rothmund-Thomson Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Rothmund-Thomson Syndrome".
This graph shows the total number of publications written about "Rothmund-Thomson Syndrome" by people in this website by year, and whether "Rothmund-Thomson Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2004 | 1 | 0 | 1 |
| 2015 | 0 | 1 | 1 |
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Below are the most recent publications written about "Rothmund-Thomson Syndrome" by people in Profiles.
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Lu L, Harutyunyan K, Jin W, Wu J, Yang T, Chen Y, Joeng KS, Bae Y, Tao J, Dawson BC, Jiang MM, Lee B, Wang LL. RECQL4 Regulates p53 Function In Vivo During Skeletogenesis. J Bone Miner Res. 2015 Jun; 30(6):1077-89.
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Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, Al-Ismaily A, Atherton DJ, Harwood CA, Leigh IM, Moss C, Didona B, Zambruno G, Patrizi A, Eady RA, McGrath JA. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol. 2004 Jan; 122(1):78-83.