Stickler syndrome

sidetal

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overordnet

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definition

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patogenese og aetiologi

COL11A1 gen
- “Father has the mutation in a minor fraction of his cells (=mosaicism)”

symptomer og fund

Fladt ansigt
Lille tilbagetrukket hage

paraklinik

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differentialdiagnoser

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udredning og forloeb

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behandling og kontrol

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