Identification of the FGFR3<sup>G380R</sup> Mutant As a Likely Cause of Psychomotor Delay in an Achondroplastic Child: A Combined Clinical Exome Sequencing and Biomolecular Modeling Approach
Mutations in the gene for fibroblast growth factor receptor 3 (FGFR3) are implicated in achondroplasia, an autosomal-dominant form of short-limbed dwarfism. The present study involves a combination of clinical exome sequencing, targeted resequencing and protein modeling methods to decipher the patho...
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| Format: | Article |
| Language: | English |
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MDPI AG
2018-12-01
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| Series: | Proceedings |
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| Online Access: | https://www.mdpi.com/2504-3900/2/25/1551 |