Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy
Author:
Funder
internal grant MH CZ DRO
Publisher
Springer Science and Business Media LLC
Subject
Biochemistry (medical),Genetics (clinical),Genetics,Molecular Biology,Molecular Medicine,Biochemistry
Link
http://link.springer.com/content/pdf/10.1186/s13039-017-0351-3.pdf
Reference35 articles.
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3. Bennet CP, Betts DR, Seller MJ. Deletion 14q(q22q23) associated with anophthalmia, absent pituitary, and other abnormalities. J Med Genet. 1991;28:280–1.
4. Nolen LD, Amor D, Haywood A, St. Heaps L, Ch W, Mihelec M, et al. Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. Am J Med Genet. 2016;140A:1711–8.
5. Bakrania P, Efthymiou M, Klein JC, Salt A, Bunyan DJ, Wyatt A, et al. Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways. Am J Hum Genet. 2008;82:304–19.
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