| Autor: |
Kenji Kumagai, Katsuaki Motomura, Masayuki Egashira, Masato Tomita, Masahiko Suzuki, Masataka Uetani, Hiroyuki Shindo, Kumagai, Kenji, Motomura, Katsuaki, Egashira, Masayuki, Tomita, Masato, Suzuki, Masahiko, Uetani, Masataka, Shindo, Hiroyuki |
| Předmět: |
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| Zdroj: |
Skeletal Radiology; Jun2008, Vol. 37 Issue 6, p563-567, 5p |
| Abstrakt: |
Progressive osseous heteroplasia (POH) is a rare, hereditary, disorder (number 166350 in Mendelian Inheritance in Man), which was first identified in 1994 and is characterized by dermal ossification beginning in infancy as a result of increasing and extensive bone formation in deep muscle and fascia. We describe a boy with typical clinical, radiographic, and genetic features of POH. A nonsense mutation in exon 7 of the GNAS1 gene was identified in genomic DNA from the patient. No such case has been reported in East Asia or Japan before this patient. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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