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...
সংরক্ষণ করুন:
| প্রধান লেখক: | , , , , , , |
|---|---|
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
Wiley
2024-04-01
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| মালা: | Molecular Genetics & Genomic Medicine |
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://doi.org/10.1002/mgg3.2439 |
| ট্যাগগুলো: |
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