A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

BACKGROUND: Because of the significant occurrence of “WAGR-region” deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its help in making an early diagnosis of WAGR syndrome. Standard cytogenetic karyotype study is a...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Vasilyeva, Tatyana A., Marakhonov, Andrey V., Minzhenkova, Marina E., Markova, Zhanna G., Petrova, Nika V., Sukhanova, Natella V., Koshkin, Philipp A., Pyankov, Denis V., Kanivets, Ilya V., Korostelev, Sergey A., Krynskaya, Irina A., Shilova, Nadezhda V., Kutsev, Sergey I., Kadyshev, Vitaly V., Zinchenko, Rena A.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7499969/
https://ncbi.nlm.nih.gov/pubmed/32948199
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-00790-1
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