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TRPS1 mutation detection in Chinese patients with Tricho‐rhino‐phalangeal syndrome and identification of four novel mutations
BACKGROUND: Tricho‐rhino‐phalangeal syndrome (TRPS) is a rare autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, a pear‐shaped nose, and cone‐shaped epiphyses. This condition is caused by haploinsuff...
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| Pubblicato in: | Mol Genet Genomic Med |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7549555/ https://ncbi.nlm.nih.gov/pubmed/33073934 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1417 |
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