HERV-Mediated Genomic Rearrangement of EYA1 in an Individual With Branchio-oto-renal Syndrome

Branchio-oto-renal syndrome is characterized by branchial defects, hearing loss, preauricular pits, and renal anomalies. Mutations in EYA1 are the most common cause of branchio-oto-renal and branchio-otic syndromes. Large chromosomal aberrations of 8q13, including complex rearrangements occur in abo...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Sanchez-Valle, Amarilis, Wang, Xueqing, Potocki, Lorraine, Xia, Zhilian, Kang, Sung-Hae L., Carlin, Mary E., Michel, Donnice, Williams, Patricia, Cabrera-Meza, Gerardo, Brundage, Ellen K., Eifert, Anna L., Stankiewicz, Pawel, Cheung, Sau Wai, Lalani, Seema R.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2010
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3605882/
https://ncbi.nlm.nih.gov/pubmed/20979191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33686
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky