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

Abstract:

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 an...

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Publication status:
Published

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Publisher copy:
10.1016/j.ajhg.2007.09.023

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Journal:
American journal of human genetics
Volume:
82
Issue:
2
Pages:
304-319
Publication date:
2008-02-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:3fd69701-6058-4a9a-952b-dfb36fd18222
Source identifiers:
186522
Local pid:
pubs:186522

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