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Trichothiodystrophy (TTD) is an
autosomal recessive inherited disorder characterised by
brittle hair and
intellectual impairment. The word
breaks down...
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syndrome (RTS), ****ayne
syndrome (CS),
xeroderma pigmentosum (XP),
trichothiodystrophy (TTD),
combined xeroderma pigmentosum-****ayne
syndrome (XP-CS),...
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clues for the
diagnosis of
trichothiodystrophy.
Review of
literature reveals extensive ****ociated
findings in
trichothiodystrophy.
Amino acid
analyses of...
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variety of syndromes; XP,
trichothiodystrophy (TTD), or a
combination of XP and ****ayne
syndrome (XPCS). Both
trichothiodystrophy and ****ayne
syndrome display...
- CARS1 have been
identified to
cause the non-photosensitive form of
trichothiodystrophy (TTD-NPS). This
disorder is
characterized by
neurodevelopmental problems...
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implicated in non-photosensitive
trichothiodystrophy (NPS-TTD), a rare
hereditary neurodevelopmental disorder.
Trichothiodystrophy (TTD) is
defined by sulfur-deficient...
- RecQ-****ociated
Werner syndrome Bloom syndrome Rothmund–Thomson
syndrome NER protein-****ociated ****ayne
syndrome Xeroderma pigmentosum Trichothiodystrophy...
- 610765
Autosomal recessive ST14
Trichothiodystrophy 601675
Autosomal recessive ERCC2, ERCC3, GTF2H5
Trichothiodystrophy (non-congenital forms) 275550 211390...
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disorders such as ****ayne
syndrome (CS) and
trichothiodystrophy (TTD). ****ayne
syndrome and
trichothiodystrophy are both
developmental disorders involving...
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Mutation in
genes ERCC3 (XPB), ERCC2 (XPD) or GTF2H5 (TTDA)
cause trichothiodystrophy, a
condition characterized by photosensitivity, ichthyosis, brittle...
