ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.16134
Abstract: Trichothiodystrophy (TTD) describes a group of rare genetic disorders of DNA repair, characterized by sulphur‐deficient hair, skin anomalies and systemic complications like preterm delivery, neurological impairment, haematological and ophthalmological abnormalities and life‐threatening infections. read more here.
Keywords: siblings severe; mutations two; trichothiodystrophy; two siblings ... See more keywords
Age‐specific associations of early daycare, older siblings, severe airway infection, and preterm birth with subsequent atopic diseases
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Allergy and Immunology"
DOI: 10.1111/pai.13771
Abstract: The effects of infection and developmental adaptations in infancy on the prevalence of subsequent atopy‐related diseases at different ages during childhood are not fully determined. This study aims to examine the similarities and differences in… read more here.
Keywords: older siblings; age specific; daycare older; severe airway ... See more keywords