Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation
Authors:
- H.G.X.M. ThomeerHTH.G.X.M. Thomeer
- E. MoravaEME. Morava
- B.M. VerbistBVB.M. Verbist
- C.W.R.J. CremersCCC.W.R.J. Cremers
- 1 July 2013
- journal article
- Published by Elsevier in International Journal of Pediatric Otorhinolaryngology
- Vol. 77 (7) , 1152-1157
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
- Congenital Stapes Ankylosis Associated With Another Ossicular Chain AnomalySurgical Results in 30 EarsJAMA Otolaryngology–Head & Neck Surgery, 2011
- Autosomal Recessive Mental Retardation, Deafness, Ankylosis, and Mild Hypophosphatemia Associated with a NovelANKHMutation in a Consanguineous FamilyThe Journal of Clinical Endocrinology & Metabolism, 2011
- Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasiaNature Genetics, 2001
- Keutel syndrome: Further characterization and reviewAmerican Journal of Medical Genetics, 1998
- The impact of a syndromal diagnosis on surgery for congenital minor ear anomaliesInternational Journal of Pediatric Otorhinolaryngology, 1991
- Otolaryngological disorders in craniometaphyseal dysplasia.The Laryngoscope, 1969