Metadata | |
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ID | DOID:0111870 |
Name | nonphotosensitive trichothiodystrophy 7 |
Definition | A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3. https://pubmed.ncbi.nlm.nih.gov/31374204/ |
Xrefs | |
Synonyms |
TTD7 [EXACT] |
Parent Relationships |