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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10.
Nat Genet. 2003.
PMID: 12627230
DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1.
Delmaghani S, Aghaie A, Compain-Nouaille S, Ataie A, Lemainque A, Zeinali S, Lathrop M, Weil D, Petit C.
Delmaghani S, et al. Among authors: compain nouaille s.
Eur J Hum Genet. 2003 Oct;11(10):816-8. doi: 10.1038/sj.ejhg.5201045.
Eur J Hum Genet. 2003.
PMID: 14512974
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