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| http://dx.doi.org/10.1016/j.jdcr.2024.06.043 | DOI Listing |
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Medical Research Council Protein Phosphorylation & Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.
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- Palmoplantar keratoderma (PPK) is a skin condition that causes thick skin and abrasions on the hands and feet, linked to genetic factors, including mutations in a specific gene.
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A nonsense variant in KRT31 is associated with autosomal dominant monilethrix.
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Institute of Human Genetics, University of Bonn, Medical Faculty and University Hospital Bonn, Bonn, Germany.
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Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Aydın Adnan Menderes University, 09100 Aydın, Turkey.
Craniofrontonasal syndrome (CFNS), also known as craniofrontonasal dysplasia, is an X-linked inherited developmental malformation caused by mutations in the ephrin B1 () gene. The main phenotypic features of the syndrome are coronal synostosis, hypertelorism, bifid nasal tip, dry and curly hair, and longitudinal splitting of nails. A 9-year-and-11-month-old girl with CFNS was admitted due to polyuria, polydipsia, fatigue, and abdominal pain.
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