Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review
Abstract Objective To characterize the phenotype spectrum, diagnosis, and response to growth‐promoting therapy in patients with ACAN variants causing familial short stature. Methods Three families with ACAN variants causing short stature were reported. Similar cases in the literature were summarized...
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| Principais autores: | , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Wiley
2024-04-01
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| Serija: | Molecular Genetics & Genomic Medicine |
| Teme: | |
| Online dostop: | https://doi.org/10.1002/mgg3.2439 |
| Oznake: |
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