Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down...
16 KB (1,642 words) - 19:21, 22 May 2025
Progeroid syndromes (section Trichothiodystrophy)
syndrome (RTS), Cockayne syndrome (CS), xeroderma pigmentosum (XP), trichothiodystrophy (TTD), combined xeroderma pigmentosum-Cockayne syndrome (XP-CS),...
74 KB (8,748 words) - 15:14, 24 November 2024
variety of syndromes; XP, trichothiodystrophy (TTD), or a combination of XP and Cockayne syndrome (XPCS). Both trichothiodystrophy and Cockayne syndrome display...
30 KB (3,015 words) - 22:35, 29 May 2025
clues for the diagnosis of trichothiodystrophy. Review of literature reveals extensive associated findings in trichothiodystrophy. Amino acid analyses of...
7 KB (803 words) - 15:23, 23 October 2024
610765 Autosomal recessive ST14 Trichothiodystrophy 601675 Autosomal recessive ERCC2, ERCC3, GTF2H5 Trichothiodystrophy (non-congenital forms) 275550 211390...
15 KB (1,008 words) - 14:16, 27 April 2025
AARS1 (section Trichothiodystrophy)
implicated in non-photosensitive trichothiodystrophy (NPS-TTD), a rare hereditary neurodevelopmental disorder. Trichothiodystrophy (TTD) is defined by sulfur-deficient...
4 KB (496 words) - 03:36, 9 December 2024
disorders such as Cockayne syndrome (CS) and trichothiodystrophy (TTD). Cockayne syndrome and trichothiodystrophy are both developmental disorders involving...
55 KB (6,744 words) - 07:46, 15 March 2025
CARS1 (section Trichothiodystrophy)
CARS1 have been identified to cause the non-photosensitive form of trichothiodystrophy (TTD-NPS). This disorder is characterized by neurodevelopmental problems...
4 KB (400 words) - 04:05, 2 June 2025
syndrome xeroderma pigmentosum complementation group D, photosensitive trichothiodystrophy, and Cockayne syndrome. XPD is essential for the viability of cells...
15 KB (1,846 words) - 16:57, 27 August 2024
RecQ-associated Werner syndrome Bloom syndrome Rothmund–Thomson syndrome NER protein-associated Cockayne syndrome Xeroderma pigmentosum Trichothiodystrophy...
35 KB (4,494 words) - 02:44, 23 May 2025
RecQ-associated Werner syndrome Bloom syndrome Rothmund–Thomson syndrome NER protein-associated Cockayne syndrome Xeroderma pigmentosum Trichothiodystrophy...
60 KB (6,292 words) - 21:58, 29 May 2025
In humans, mutation in any one of four genes can give rise to the trichothiodystrophy phenotype. These genes are TTDN1, XPB, XPD and GTF2H5(TTDA). GTF2H5...
4 KB (529 words) - 00:32, 2 December 2023
Transcription factor II H (section Trichothiodystrophy)
Mutation in genes ERCC3 (XPB), ERCC2 (XPD) or GTF2H5 (TTDA) cause trichothiodystrophy, a condition characterized by photosensitivity, ichthyosis, brittle...
11 KB (1,203 words) - 14:43, 29 April 2025
with an inherited defect in both alleles of the gene suffer from trichothiodystrophy (TTD), a disease hallmarked by brittle hair and nails and usually...
4 KB (578 words) - 05:02, 3 June 2024
RecQ-associated Werner syndrome Bloom syndrome Rothmund–Thomson syndrome NER protein-associated Cockayne syndrome Xeroderma pigmentosum Trichothiodystrophy...
30 KB (3,096 words) - 18:02, 30 May 2025
RecQ-associated Werner syndrome Bloom syndrome Rothmund–Thomson syndrome NER protein-associated Cockayne syndrome Xeroderma pigmentosum Trichothiodystrophy...
25 KB (2,760 words) - 20:10, 29 May 2025
Known causes of collodion baby include ichthyosis vulgaris and trichothiodystrophy. Less well documented causes include Sjögren-Larsson syndrome, Netherton...
9 KB (975 words) - 20:49, 12 November 2024
machinery are responsible for multiple genetic disorders including: Trichothiodystrophy (TTD): some individuals are photosensitive, ichthyosis, mental/physical...
33 KB (3,623 words) - 18:02, 20 August 2024
sulfur-deficient brittle hair syndrome, Tay's syndrome, trichothiodystrophy, trichothiodystrophy with ichthyosis) Ichthyosis bullosa of Siemens (ichthyosis...
198 KB (17,971 words) - 14:11, 23 May 2025
Menkes' kinky hair syndrome, Netherton's syndrome, hypothyroidism, or trichothiodystrophy. Examination of the hair shafts with a microscope may reveal changes...
4 KB (357 words) - 14:49, 30 June 2024
provide information about the known and explored therapeutic targets Trichothiodystrophy, a characteristic of Tay syndrome Trinidad and Tobago dollar, ISO...
1 KB (175 words) - 11:19, 5 November 2024
screenplay for Baby Doll Tiger tail banding of hair, a symptom of trichothiodystrophy Tiger tail donut, a donut that is twisted with another ingredient...
1 KB (206 words) - 19:45, 8 September 2024
Trichorhinophalangeal syndrome type III Trichostasis spinulosa Trichothiodystrophy sun sensitivity Trichothiodystrophy Trichotillomania Tricuspid atresia Tricuspid dysplasia...
10 KB (852 words) - 10:20, 12 May 2025
syndrome Bloom syndrome Cockayne syndrome Xeroderma pigmentosum Trichothiodystrophy Xeroderma pigmentosum-Cockayne syndrome Restrictive dermopathy Mandibuloacral...
60 KB (6,678 words) - 04:23, 25 May 2025
Syndactyly Syphilis, congenital Teratoma Treacher Collins syndrome Trichothiodystrophy Triple-X syndrome Trisomy 13 Trisomy 9 Turner syndrome Umbilical...
5 KB (363 words) - 08:01, 21 March 2025
Treacher Collins syndrome Trench foot Tricho-hepato-enteric syndrome Trichothiodystrophy Tricho–dento–osseous syndrome Tricho–rhino–phalangeal syndrome Trigeminal...
42 KB (4,068 words) - 09:46, 19 May 2025
(Hutchinson–Gilford progeria syndrome) Rothmund–Thomson syndrome Trichothiodystrophy Werner syndrome Xeroderma pigmentosum Some examples of DNA repair...
43 KB (3,770 words) - 18:03, 27 November 2024
syndrome, steatocystoma multiplex, tricho-hepato-enteric syndrome, and trichothiodystrophy, photosensitive. A diverse range of hereditary diseases known as...
48 KB (4,439 words) - 14:50, 2 October 2024
melanoma BSCL2 Berardinelli–Seip syndrome C282Y Hemochromatosis C7orf11 Trichothiodystrophy CBS Cystathionine synthase Homocystinuria CDKN2A Familial melanoma...
12 KB (108 words) - 02:46, 17 September 2022
Nijmegen breakage syndrome, some subgroups of xeroderma pigmentosum, trichothiodystrophy, Fanconi anemia, Bloom syndrome and Rothmund–Thomson syndrome.[citation...
97 KB (11,163 words) - 08:06, 6 January 2025