Expanding the clinical and molecular features of trichorhino- phalangeal syndrome with a novel variant

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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Bibliographic Details
Main Authors: Nuray Öztürk, Gökcen Karamık, Hatice Mutlu, Öznur Yılmaz Bayer, Ercan Mıhçı, Gökhan Ozan Çetin, Banu Nur
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2023-02-01
Series:The Turkish Journal of Pediatrics
Subjects:
TRPS1 gene
TRPS2
Tricho-rhino-phalangeal syndrome
multiple exostoses
novel mutation
Online Access:https://turkjpediatr.org/article/view/10
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