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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Case Report
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker