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- Title
Genetics Corner: Trichothiodystrophy 1 Causes Neutropenia in an Infant with Congenital ichthyosis and Brittle Hair.
- Authors
Clark, Robin Dawn; Ramaanthan, Subhadra
- Abstract
The article presents a case study related to 10-month old male infant was referred for genetic evaluation for trichothiodystrophy. Topics include the infant had been mostly at home without much contact outside his immediate family because of the coronavirus restrictions, and the pathogenic variants in ERCC2 (XPD) are associated with a group of autosomal recessive disorders, including trichothiodystrophy.
- Subjects
GENETICS; INFANTS; ICHTHYOSIS; NEUTROPENIA; MEDICAL care; HIGH-risk pregnancy; MOTHERS; PROTEINS; TRICHOTHIODYSTROPHY syndromes; DNA; HAIR analysis; CRYPTORCHISM; FETAL growth retardation; FETAL movement; CONGENITAL ichthyosiform erythroderma; CESAREAN section; HELLP syndrome; STYE; CHILD development deviations
- Publication
Neonatology Today, 2021, Vol 16, Issue 1, p143
- ISSN
1932-7129
- Publication type
Case Study
- DOI
10.51362/neonatology.today/2021161143146