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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i:Mol Cytogenet
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2015
Fag:
Research
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker