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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:BMC Med Genomics
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: BioMed Central 2020
विषय:
Case Report
ऑनलाइन पहुंच: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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