Details

Autor(en) / Beteiligte

• Coucke, Paul
• Van Camp, Guy
• Djoyodiharjo, Bulantrisna
• Smith, Shelley D
• Frants, Rune R
• Padberg, Georges W
• Darby, John K
• Huizing, Egbert H
• Cremers, Cor
• Kimberling, William J
• Oostra, Ben A
• Van de Heyning, Paul H
• Willems, Patrick J

Titel

Linkage of Autosomal Dominant Hearing Loss to the Short Arm of Chromosome 1 in Two Families

Ist Teil von

• The New England journal of medicine, 1994-08, Vol.331 (7), p.425-431

Ort / Verlag

Boston, MA: Massachusetts Medical Society

Erscheinungsjahr

1994

Link zum Volltext

Quelle

Free E-Journal (出版社公開部分のみ）

Beschreibungen/Notizen

• Deafness affects approximately one person in two by the age of 80 years 1 . Hearing loss also affects about one in every thousand children 1 , 2 . More than 60 percent of the cases of profound early-onset deafness are caused by genetic factors, in most cases probably single gene mutations 3 . About 75 percent of the people with genetically determined deafness have no additional clinical abnormalities. The other 25 percent have clinically recognizable signs that constitute an identifiable syndrome 1 – 3 . In progressive hearing loss in the later decades, environmental causes play an important part, although underlying genetic risk factors are . . .