trichothiodystrophy syndromes/gluhost

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Trichothiodystrophy with severe cardiac and neurological involvement in two sisters.

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Prijava / prijava

Trichothiodystrophy or sulphur-deficient brittle hair is a clinical marker for several autosomal recessive neurocutaneous syndromes. The typical hair abnormality is frequently associated with many alterations affecting the skin, nervous system, eyes and bones as well as the immune, gonadal and

Trichothiodystrophy-like hair abnormalities in a child with keratitis ichthyosis deafness syndrome.

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Prijava / prijava

Keratitis ichthyosis deafness syndrome is a rare congenital ectodermal disorder. It appears to be genetically heterogeneous and may be caused by mutations in the connexin 26 (Cx26) gene (GJB2) or in the connexin 30 gene. It is characterized by the association of ichthyosis-like skin lesions, hearing

Hypomorphic PCNA mutation underlies a human DNA repair disorder.

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Prijava / prijava

Numerous human disorders, including Cockayne syndrome, UV-sensitive syndrome, xeroderma pigmentosum, and trichothiodystrophy, result from the mutation of genes encoding molecules important for nucleotide excision repair. Here, we describe a syndrome in which the cardinal clinical features include

Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.

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Prijava / prijava

Cerebro-oculo-facio-skeletal (COFS) syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure. Cockayne syndrome (CS) is a recessively inherited

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