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Hypochondroplasia in a Child with 1620C>G (Asn540Lys) Mutation in FGFR3
Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACP). Fibroblast growth factor receptor 3 gene (FGFR3) mutations in the germline are we...
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| Main Authors: | , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Galenos Publishing
2012
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3537291/ https://ncbi.nlm.nih.gov/pubmed/23149434 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/Jcrpe.787 |
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