9q22 Deletion - First Familial Case

BACKGROUND: Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400) due to haploinsufficiency of the PTCH1 gene (MIM *601309). METHODS AND RESULTS: We report two me...

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Détails bibliographiques
Auteurs principaux: Siggberg, Linda, Peippo, Maarit, Sipponen, Marjatta, Miikkulainen, Taina, Shimojima, Keiko, Yamamoto, Toshiyuki, Ignatius, Jaakko, Knuutila, Sakari
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2011
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3135502/
https://ncbi.nlm.nih.gov/pubmed/21693067
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-6-45
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