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A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report |
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| Authors: | Eliza Michalska Agnieszka Koppolu Anna Dobrzańska Rafał Płoski Dariusz Gruszfeld |
| Institution: | 1. Department of Neonatal Intensive Care, The Children''s Memorial Health Institute, Poland;2. Department of Medical Genetics, Warsaw Medical University, Poland;3. Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland |
| Abstract: | |
| Keywords: | Corresponding author Department of Neonatal Intensive Care The Children's Memorial Health Institute al Dzieci Polskich 20 04-730 Warsaw Poland Trichothiodystrophy Ichthyosis Collodion baby DNA repair Whole exome sequencing TTD trichothiodystrophy MRI magnetic resonance imaging SAM syndrome severe dermatitis multiple allergies and metabolic wasting WES whole exome sequencing ADS amplicon deep sequencing |
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