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A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report
RATIONALE: X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is a rare hereditary cause in childhood short stature due to mutations in trafficking protein particle complex subunit 2 (TRAPPC2) gene located on chromosome Xp22. Several pathogenic variants in TRAPPC2 have been reported, but mi...
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| Veröffentlicht in: | Medicine (Baltimore) |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Lippincott Williams & Wilkins
2021
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7982231/ https://ncbi.nlm.nih.gov/pubmed/33726005 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000025169 |
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