A Term Female Neonate with Achondroplasia: A Case Report
Achondroplasia is one of the commonest causes of dwarfism, inherited as autosomal dominant trait. Majority of the cases are due to mutation in the Fibroblast Growth Factor Receptor 3 (FGFR3). The mutation results in gain of FGFR3 function, which affects cartilaginous growth plate in the growing bone...
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Format: | Book |
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JCDR Research and Publications Pvt. Ltd.,
2017-01-01T00:00:00Z.
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A1234.567 |
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