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 |
|---|
| 2001 | 1 | 0 | 1 |
| 2002 | 1 | 0 | 1 |
| 2003 | 2 | 0 | 2 |
| 2005 | 1 | 0 | 1 |
| 2006 | 2 | 0 | 2 |
| 2007 | 1 | 0 | 1 |
| 2008 | 3 | 0 | 3 |
| 2010 | 2 | 1 | 3 |
| 2014 | 1 | 0 | 1 |
| 2015 | 0 | 1 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 0 | 1 | 1 |
| 2021 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
| 2023 | 1 | 0 | 1 |
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Below are the most recent publications written about "Rothmund-Thomson Syndrome" by people in Profiles.
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Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence. Genet Med. 2023 Jul; 25(7):100836.
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Cancer risk among RECQL4 heterozygotes. Cancer Genet. 2022 04; 262-263:107-110.
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Patient-derived iPSCs link elevated mitochondrial respiratory complex I function to osteosarcoma in Rothmund-Thomson syndrome. PLoS Genet. 2021 12; 17(12):e1009971.
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RECQ DNA Helicases and Osteosarcoma. Adv Exp Med Biol. 2020; 1258:37-54.
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Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. Am J Hum Genet. 2019 09 05; 105(3):625-630.
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Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome. Hum Mol Genet. 2017 08 15; 26(16):3046-3055.
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Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders. Ageing Res Rev. 2017 Jan; 33:30-35.
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RECQL4 Regulates p53 Function In Vivo During Skeletogenesis. J Bone Miner Res. 2015 Jun; 30(6):1077-89.
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RECQ DNA helicases and osteosarcoma. Adv Exp Med Biol. 2014; 804:129-45.
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Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. Am J Med Genet A. 2011 Feb; 155A(2):337-42.