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

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

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...

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Hlavní autoři: Bakrania, P, Efthymiou, M, Klein, J, Salt, A, Bunyan, D, Wyatt, A, Ponting, C, Martin, A, Williams, S, Lindley, V, Gilmore, J, Restori, M, Robson, A, Neveu, M, Holder, G, Collin, JR, Robinson, DO, Farndon, P, Johansen-Berg, H, Gerrelli, D, Ragge, N
Médium: Journal article
Jazyk:English
Vydáno: 2008

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