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A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene
The Miller-McKusick-Malvaux (3M) syndrome is a rare autosomal disorder that can lead to short stature, dysmorphic features, and skeletal abnormalities with normal intelligence. A 16-month-old female patient had been referred to our clinic due to short stature. Case history revealed a birth weight of...
שמור ב:
| הוצא לאור ב: | J Clin Res Pediatr Endocrinol |
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| Main Authors: | , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Galenos Publishing
2017
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5363173/ https://ncbi.nlm.nih.gov/pubmed/27796265 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.3238 |
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