Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome and the c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population
3M syndrome is an autosomal recessive disorder characterized by short stature and skeletal developmental abnormalities. A Chinese girl with 3M syndrome and a novel OBSL1 (obscurin-like 1 gene) variant is presented. The patient is a 2-year-old girl who presented with short stature and had intrauterin...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayincilik
2024-12-01
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| Series: | JCRPE |
| Subjects: | |
| Online Access: | https://jcrpe.org/jvi.aspx?un=JCRPE-22448&volume=16&issue=4 |
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