Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways
Article Abstract:
Several studies are conducted to show that the mutations in the Bone Morphogenetic Protein-4 (BMP4) gene lead to various eye, brain and digit developmental anomalies in humans. The results show that the interaction of BMP4 with hedgehog signaling genes usually lead to such disorders.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Genetic aspects, Child development deviations, Developmental disabilities, Bone morphogenetic proteins, Structure
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
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Biallelic mutation of BEST1 causes a distinct retinopathy in humans
Article Abstract:
A distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB) that results in biallelic mutation in bestrophin-1 (BEST1) is described. It is proposed that ARB is the null phenotype of BEST1 in humans.
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Causes of, Gene mutations, Gene mutation, Retinal diseases, Allelomorphism, Alleles
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
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Subjects list: Research
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