Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.

@article{Kim2005HypogonadotropicHA,
  title={Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1.},
  author={Hyung Goo Kim and Steven R. Herrick and Emmanuelle Lemyre and Shotaro Kishikawa and J A Salisz and Salvatore Seminara and Marcy E. MacDonald and Gail A. P. Bruns and Cynthia C Morton and Bradley J Quade and James F. Gusella},
  journal={Journal of medical genetics},
  year={2005},
  volume={42 8},
  pages={666-72}
}
W e have established the Developmental Genome Anatomy Project (DGAP; //dgap.harvard.edu) to take advantage of the unique opportunity to locate genes of developmental importance provided by apparently balanced chromosomal rearrangements associated with phenotypic abnormalities. By positional cloning at or near the breakpoints, we aim to identify the crucial disease genes whose functions have been disrupted by rearrangement. Kallmann’s syndrome (KS) is a developmental disorder characterised by… CONTINUE READING