A 45-year-old Italian male with p.(Gly1815Ser) FBN1 mutation causing a mild variant of Marfan syndrome: A case study
A 45-year-old Italian male was referred as suspected of having a heritable connective tissue disorders by clinical findings, including joint hyperlaxity and soft, smooth, velvety, and slightly elastic skin. Using a specific custom panel including genes involved in these disorders, next-generation se...
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| Formaat: | Boek |
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Wolters Kluwer Medknow Publications,
2020-01-01T00:00:00Z.
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Internet
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| Plaatsingsnummer: |
A1234.567 |
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| Kopie 1 | Beschikbaar |