Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism

BACKGROUND: Diffuse oesophageal leiomyomatosis (DOL) is a rare disorder characterized by tumorous overgrowth of the muscular wall of the oesophagus. DOL is present in 5 % of Alport syndrome (AS) patients. AS is a rare hereditary disease that involves varying degrees of hearing impairment, ocular cha...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Liu, Wei, Wong, John KL, He, Qiuming, Wong, Emily HM, Tang, Clara SM, Zhang, Ruizhong, So, Man-ting, Wong, Kenneth KY, Nicholls, John, Cherny, Stacey S, Sham, Pak C, Tam, Paul K, Garcia-Barcelo, Maria-Mercè, Xia, Huimin
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4557859/
https://ncbi.nlm.nih.gov/pubmed/26179878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0189-7
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