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Trichothiodystrophies, Nonphotosensitive 1(TTDN1)

MedGen UID:
896522
Concept ID:
C4083251
Disease or Syndrome
Synonym: Trichothiodystrophy, Nonphotosensitive 1
 
OMIM®: 234050

Professional guidelines

PubMed

Scott EM, Chandra S, Li J, Robinette ED, Brown MF, Wenger OK
J Clin Immunol 2020 Feb;40(2):321-328. Epub 2020 Jan 6 doi: 10.1007/s10875-019-00739-9. PMID: 31903518
Phillips TG, Slomiany WP, Allison R
Am Fam Physician 2017 Sep 15;96(6):371-378. PMID: 28925637
Rasheed M, Shahzad S, Zaeem A, Afzal I, Gul A, Khalid S
Arch Dermatol Res 2017 Dec;309(10):773-785. Epub 2017 Sep 14 doi: 10.1007/s00403-017-1780-x. PMID: 28913623

Recent clinical studies

Etiology

Theil AF, Häckes D, Lans H
DNA Repair (Amst) 2023 Dec;132:103568. Epub 2023 Sep 7 doi: 10.1016/j.dnarep.2023.103568. PMID: 37977600
Ferri D, Orioli D, Botta E
Clin Genet 2020 Jan;97(1):12-24. Epub 2019 Apr 22 doi: 10.1111/cge.13545. PMID: 30919937
Abdel-Naser MB, Zouboulis CC
Rev Endocr Metab Disord 2016 Sep;17(3):353-365. doi: 10.1007/s11154-016-9368-x. PMID: 27342409
Alves R, Grimalt R
Curr Probl Dermatol 2015;47:55-66. Epub 2015 Feb 20 doi: 10.1159/000369405. PMID: 26370644
Norgauer J, Idzko M, Panther E, Hellstern O, Herouy Y
Eur J Dermatol 2003 Jan-Feb;13(1):4-9. PMID: 12609773

Diagnosis

Garon L, Kokta V, Coulombe J
JAMA Dermatol 2023 Aug 1;159(8):877. doi: 10.1001/jamadermatol.2023.0913. PMID: 37342013
Phillips TG, Slomiany WP, Allison R
Am Fam Physician 2017 Sep 15;96(6):371-378. PMID: 28925637
Yoneda K
J Dermatol 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284. PMID: 26945533
Lindsey SF, Tosti A
Curr Probl Dermatol 2015;47:139-49. Epub 2015 Feb 20 doi: 10.1159/000369414. PMID: 26370652
Norgauer J, Idzko M, Panther E, Hellstern O, Herouy Y
Eur J Dermatol 2003 Jan-Feb;13(1):4-9. PMID: 12609773

Therapy

Yew YW, Giordano CN, Spivak G, Lim HW
J Am Acad Dermatol 2016 Nov;75(5):873-882. doi: 10.1016/j.jaad.2016.03.044. PMID: 27745642
Compe E, Egly JM
Annu Rev Biochem 2016 Jun 2;85:265-90. doi: 10.1146/annurev-biochem-060815-014857. PMID: 27294439
Lindsey SF, Tosti A
Curr Probl Dermatol 2015;47:139-49. Epub 2015 Feb 20 doi: 10.1159/000369414. PMID: 26370652
Alves R, Grimalt R
Curr Probl Dermatol 2015;47:55-66. Epub 2015 Feb 20 doi: 10.1159/000369405. PMID: 26370644
Shah P, He YY
Photochem Photobiol 2015 Mar-Apr;91(2):254-64. Epub 2015 Jan 14 doi: 10.1111/php.12406. PMID: 25534312Free PMC Article

Prognosis

Scott EM, Chandra S, Li J, Robinette ED, Brown MF, Wenger OK
J Clin Immunol 2020 Feb;40(2):321-328. Epub 2020 Jan 6 doi: 10.1007/s10875-019-00739-9. PMID: 31903518
Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM
Am J Med Genet A 2020 Mar;182(3):513-520. Epub 2019 Dec 27 doi: 10.1002/ajmg.a.61450. PMID: 31880405Free PMC Article
Leemans G, De Raeve L, Keymolen K
J Eur Acad Dermatol Venereol 2020 Apr;34(4):876-879. Epub 2020 Jan 6 doi: 10.1111/jdv.16134. PMID: 31803976
Brooks BP, Thompson AH, Clayton JA, Chan CC, Tamura D, Zein WM, Blain D, Hadsall C, Rowan J, Bowles KE, Khan SG, Ueda T, Boyle J, Oh KS, DiGiovanna JJ, Kraemer KH
Ophthalmology 2011 Dec;118(12):2335-42. Epub 2011 Sep 28 doi: 10.1016/j.ophtha.2011.05.036. PMID: 21959366Free PMC Article
Ellis NA
Curr Opin Genet Dev 1997 Jun;7(3):354-63. doi: 10.1016/s0959-437x(97)80149-9. PMID: 9229111

Clinical prediction guides

Theil AF, Pines A, Kalayci T, Heredia-Genestar JM, Raams A, Rietveld MH, Sridharan S, Tanis SE, Mulder KW, Büyükbabani N, Karaman B, Uyguner ZO, Kayserili H, Hoeijmakers JH, Lans H, Demmers JA, Pothof J, Altunoglu U, El Ghalbzouri A, Vermeulen W
EMBO Mol Med 2023 Nov 8;15(11):e17973. Epub 2023 Oct 6 doi: 10.15252/emmm.202317973. PMID: 37800682Free PMC Article
Pascolini G, Gaudioso F, Baldi M, Alario D, Dituri F, Novelli A, Baban A
J Hum Genet 2023 Jun;68(6):437-443. Epub 2023 Feb 22 doi: 10.1038/s10038-023-01134-4. PMID: 36810639
Zurita M, Murillo-Maldonado JM
Int J Mol Sci 2020 Jan 17;21(2) doi: 10.3390/ijms21020630. PMID: 31963603Free PMC Article
Rudnicka L, Olszewska M, Waśkiel A, Rakowska A
Dermatol Clin 2018 Oct;36(4):421-430. Epub 2018 Aug 16 doi: 10.1016/j.det.2018.05.009. PMID: 30201151
Alves R, Grimalt R
Curr Probl Dermatol 2015;47:55-66. Epub 2015 Feb 20 doi: 10.1159/000369405. PMID: 26370644

Recent systematic reviews

Faghri S, Tamura D, Kraemer KH, Digiovanna JJ
J Med Genet 2008 Oct;45(10):609-21. Epub 2008 Jun 25 doi: 10.1136/jmg.2008.058743. PMID: 18603627Free PMC Article

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