Similar articles for PMID: 23188052

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1

Clinical utility gene card for: Rothmund-Thomson syndrome.

Larizza L, Roversi G, Verloes A. Larizza L, et al. Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.260. Epub 2012 Nov 28. Eur J Hum Genet. 2013. PMID: 23188052 Free PMC article. No abstract available.

2

[Rothmund-Thomson syndrome].

Kuniba H, Egashira M, Motomura H, Motomura K, Kondoh T. Kuniba H, et al. Nihon Rinsho. 2006 Sep 28;Suppl 3:481-4. Nihon Rinsho. 2006. PMID: 17022592 Review. Japanese. No abstract available.

3

Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4.

Bhoyrul B, Lindsay H, Robinson R, Stahlschmidt J, Palmer T, Edward S, Clark SM. Bhoyrul B, et al. J Eur Acad Dermatol Venereol. 2018 Jun;32(6):e221-e223. doi: 10.1111/jdv.14742. Epub 2017 Dec 26. J Eur Acad Dermatol Venereol. 2018. PMID: 29224249 No abstract available.

4

Four novel RECQL4 mutations in four Chinese patients with Rothmund-Thomson syndrome and analysis of RECQL4 mRNA expression level in one typical patient.

Wang T, Chen L, She Q, Dong Y, Deng Y. Wang T, et al. J Dermatol Sci. 2018 Sep;91(3):335-337. doi: 10.1016/j.jdermsci.2018.06.005. Epub 2018 Jun 19. J Dermatol Sci. 2018. PMID: 30007837 No abstract available.

5

Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders.

Lu L, Jin W, Wang LL. Lu L, et al. Ageing Res Rev. 2017 Jan;33:30-35. doi: 10.1016/j.arr.2016.06.002. Epub 2016 Jun 7. Ageing Res Rev. 2017. PMID: 27287744 Review.

6

A rare RECQL4 indel mutation in a Chinese patient with Rothmund-Thomson syndrome.

Zhang J, Yan M, Cheng R, Ni C, Liang J, Li M, Yao Z. Zhang J, et al. J Eur Acad Dermatol Venereol. 2016 Nov;30(11):e159-e161. doi: 10.1111/jdv.13466. Epub 2015 Oct 30. J Eur Acad Dermatol Venereol. 2016. PMID: 26515231 No abstract available.

7

Rothmund-Thomson syndrome type 2 - a rare cause of chronic wounds.

Moelleken M, Jockenhöfer F, Dissemond J. Moelleken M, et al. J Dtsch Dermatol Ges. 2019 Apr;17(4):451-453. doi: 10.1111/ddg.13805. Epub 2019 Mar 1. J Dtsch Dermatol Ges. 2019. PMID: 30821407 No abstract available.

8

A case of Rothmund-Thomson syndrome originally thought to be a case of Bloom syndrome.

Marmolejo Castañeda DH, Cruellas Lapeña M, Carrasco López E, Aparicio Español G, Valverde Morales C, López-Fernández A, Pérez Ballesteros E, Torres-Esquius S, Pardo Muñoz M, Balmaña Gelpi J. Marmolejo Castañeda DH, et al. Fam Cancer. 2023 Jan;22(1):99-102. doi: 10.1007/s10689-022-00303-2. Epub 2022 Jul 4. Fam Cancer. 2023. PMID: 35781852

9

[Rothmund-Thomson syndrome, trisomy 8 mosaicism and RECQ4 gene mutation].

Durand F, Castorina P, Morant C, Delobel B, Barouk E, Modiano P. Durand F, et al. Ann Dermatol Venereol. 2002 Jun-Jul;129(6-7):892-5. Ann Dermatol Venereol. 2002. PMID: 12218919 French.

10

Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation.

Salih A, Inoue S, Onwuzurike N. Salih A, et al. BMJ Case Rep. 2018 Jan 23;2018:bcr2017222384. doi: 10.1136/bcr-2017-222384. BMJ Case Rep. 2018. PMID: 29367366 Free PMC article.

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