Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate

Figure 2

Mutations in three Kallmann syndrome (KS) males with cleft lip/palate. Heterozygous missense mutations in (a) FGFR1, (NM_001174066): c.776G>A (p.G259E) in case , (b) KISSR1, (NM_032551): c.587C>A (p.P196H) in case , and (c) FGFR1, NM_001174066: c.358C>T (p.R120C) in case . For comparison, normal sequences of the corresponding regions are indicated.

(a)

(b)

(c)