Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant
Background. Tricho-rhino-phalangeal syndrome (TRPS) is a rare, autosomal dominant disorder characterized by typical craniofacial features, ectodermal and skeletal findings. TRPS type 1 (TRPS1) is caused by pathogenic variations in the TRPS1 gene, which relates to the vast majority of cases. T...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2023-02-01
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| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/10 |
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