Audiometric characteristics of two Dutch families with non-ocular Stickler syndrome (COL11A2)

Author:

van Beelen E.,Leijendeckers J.M.,Huygen P.L.M.,Admiraal R.J.C.,Hoefsloot L.H.,Lichtenbelt K.D.,Stöbe L.,Pennings R.J.E.,Leuwer R.,Snik A.F.M.,Kunst H.P.M.

Publisher

Elsevier BV

Subject

Sensory Systems

Reference29 articles.

1. Hearing loss in the nonocular Stickler syndrome caused by a COL11A2 mutation;Admiraal;Laryngoscope,2000

2. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes;Annunen;Am. J. Hum. Genet.,1999

3. Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene;Avcin;J. Rheumatol.,2008

4. Intelligibility of Dutch CVC syllables and sentences for listeners with normal hearing and with three types of hearing impairment117;Bosman;Audiology,1995

5. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene;Brunner;Hum. Mol. Genet.,1994

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