Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss

BACKGROUND: Sensorineural hearing impairment is a common pathological manifestation in patients affected by X-linked intellectual disability. A few cases of interstitial deletions at Xq21 with several different phenotypic characteristics have been described, but to date, a complete molecular charact...

詳細記述

保存先:
書誌詳細
出版年:Mol Cytogenet
主要な著者: Iossa, Sandra, Costa, Valerio, Corvino, Virginia, Auletta, Gennaro, Barruffo, Luigi, Cappellani, Stefania, Ceglia, Carlo, Cennamo, Giovanni, D’Adamo, Adamo Pio, D’Amico, Alessandra, Di Paolo, Nilde, Forte, Raimondo, Gasparini, Paolo, Laria, Carla, Lombardo, Barbara, Malesci, Rita, Vitale, Andrea, Marciano, Elio, Franzè, Annamaria
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2015
主題:
Research
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4376344/
https://ncbi.nlm.nih.gov/pubmed/25821518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0120-0
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!

類似資料