Peer-Reviewed Journal Details
Mandatory Fields
Hinson JT, Fantin VR, Schönberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE
2007
February
The New England journal of medicine
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
Published
Optional Fields
356
8
809
819
The Björnstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti, is caused by mutation of a previously unidentified gene on chromosome 2q34-36.
10.1056/NEJMoa055262
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