Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

@article{Bakrania2008MutationsIB,
  title={Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.},
  author={Preeti Bakrania and Maria Efthymiou and Johannes C. Klein and Alison T Salt and David Bunyan and Alex Wyatt and Chris P. Ponting and Angela Mart{\'i}n and Steven Williams and Victoria H Lindley and Joanne Gilmore and Marie Restori and Anthony George Robson and Magella M. Neveu and G. E. Holder and John Richard O Collin and David O. Robinson and Peter A. Farndon and Heidi Johansen-Berg and Dianne Gerrelli and Nicola Ragge},
  journal={American journal of human genetics},
  year={2008},
  volume={82 2},
  pages={304-19}
}
Developmental ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous disorders with frequent sporadic or non-Mendelian inheritance. Recurrent interstitial deletions of 14q22-q23 have been associated with AM, sometimes with poly/syndactyly and hypopituitarism. We identify two further cases of AM (one with associated pituitary anomalies) with a 14q22-q23 deletion. Using a positional candidate gene approach, we analyzed the BMP4 (Bone Morphogenetic Protein-4) gene and… CONTINUE READING
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