Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C
| Autor: | Gen Nishimura, Masaki Takagi, Tomonobu Hasegawa, Nobuhiro Suzumori, Saori Kaneko-Schmitt |
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| Rok vydání: | 2011 |
| Předmět: |
Genetics
Male Thanatophoric Dysplasia Thanatophoric dysplasia Somatic cell Mosaicism Biology medicine.disease Fibroblast growth factor Osteochondrodysplasia Achondroplasia Somatic mosaicism Communication disorder Child Preschool Mutation (genetic algorithm) Mutation medicine Humans Receptor Fibroblast Growth Factor Type 3 Genetics (clinical) |
| Zdroj: | American journal of medical genetics. Part A. (1) |
| ISSN: | 1552-4833 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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