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Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK

Goltz syndrome or focal dermal hypoplasia (FDH), is an X-linked dominant condition which predominantly involves the skin, limbs and eyes. In otolaryngology, FDH has been poorly described, but can result in increased symptoms of obstructive sleep apnoea requiring surgery. There have also been documen...

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Dades bibliogràfiques
Publicat a:BMJ Case Rep
Autors principals: Freethy, Alexander, Acharya, Vikas, Iacovidou, Aphrodite, Taghi, Ali
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2019
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6904200/
https://ncbi.nlm.nih.gov/pubmed/31811108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-231809
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