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

Nuray Öztürk,Gökcen Karamık,Hatice Mutlu, Öznur Yılmaz Bayer,Ercan Mıhçı,Gökhan Ozan Çetin,Banu Nur

The Turkish journal of pediatrics（2023）

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摘要

Our study contributes to the clinical and genetic spectrum of patients with TRPS while also providing a review by comparing with previous cohort studies.

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关键词

TRPS1 gene,TRPS2,Tricho-rhino-phalangeal syndrome,multiple exostoses,novel mutation

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