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We show that distinct human limb malformations are caused by deletions, inversions, or duplications altering the structure of the TAD-spanning WNT6/IHH/EPHA4/PAX3 locus.
Such finding is consistent with the hypothesis that fruit malformations are caused by a too high auxin content.
According to the modern paradigm, congenital malformations are caused by interaction of genetic and environmental factors [ 31].
Whereas NPC disease is caused by a defect in the intracellular trafficking of cholesterol, several other rare human diseases that cause neurodegeneration and developmental malformations are caused by direct impairment of the cholesterol biosynthetic pathway (reviewed by Porter, 2006; Porter and Herman, 2011).
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BACKGROUND/PURPOSE: Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene.
Hereditary hemorrhagic telangiectasia (HHT), associated with brain arteriovenous malformations, is caused by a loss of function mutation in either the endoglin (HHT1) or activin receptor-like kinase 1 gene (ALK-1, HHT2).
Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly, obesity, and other congenital malformations, is caused by mutations in RAB23, encoding a member of the Rab-family of small GTPases.
As well, we cannot exclude the possibility that increased risk of congenital malformations is caused by the disease underlying SSRI use or by other disease-related factors, rather than by SSRI use itself.
It was recently discovered that Costello syndrome, a developmental disorder exhibiting musculoskeletal and nervous system malformation, is caused by germline mutations in the Ha-ras gene [ 12].
It is less clear, however, whether the resulting bone malformations and fragility are caused by effects of intracellular accumulation of misfolded collagen on differentiation and function of osteoblasts, effects of secreted misfolded collagen on the function of bone matrix, or both.
Of all the congenital malformations, 60 70% are caused by unknown environmental and/or genetic causes (Moore and Persaud 1998).
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