Carregant...

X-linked Deafness-2 (DFNX2) Phenotype Associated with a Paracentric Inversion Upstream of POU3F4

PURPOSE: The authors report a seven-year-old male, designated FR, with severe sensorineural hearing loss. Features include round face, hypertelorism, epicanthal folds, and flat nasal root. Although there were early developmental concerns, all but his speech delay resolved when he was placed in an ed...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Am J Audiol
Autors principals: Anger, Gregory J., Crocker, Susan, McKenzie, Kyle, Brown, Kerry K., Morton, Cynthia C., Harrison, Karen, MacKenzie, Jennifer J.
Format: Artigo
Idioma:Inglês
Publicat: 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4644427/
https://ncbi.nlm.nih.gov/pubmed/24096866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1044/1059-0889(2013/13-0018)
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!