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...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Mol Cytogenet
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: BioMed Central 2015
Θέματα:
Research
Διαθέσιμο Online: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
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