The Epidemiology of Rare Heritable Traits such as Split-Hand and Foot Malformation (SHFM)
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چکیده
The object of this paper is to describe a simple model of the occurrence of rare heritable traits. In the past, a standard deterministic model has been used to relate the incidence A of a trait to the mutation rate v. One use of such a model is estimation of the mutation rate from the incidence. Here the emphasis is on the potential variability of occurrence by introduction of stochastic elements. The properties of the model are explored by simulation, assuming a set of values of the parameters.
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The Epidemiology of Rare Heritable Traits such as Split-Hand and Foot Malformation (SHFM)
The object of this paper is to describe a simple model of the occurrence of rare heritable traits. In the past, a standard deterministic model has been used to relate the incidence A of a trait to the mutation rate v. One use of such a model is estimation of the mutation rate from the incidence. Here the emphasis is on the potential variability of occurrence by introduction of stochastic elemen...
متن کاملThe Epidemiology of Rare Heritable Traits such as Split-Hand and Foot Malformation (SHFM)
The object of this paper is to describe a simple model of the occurrence of rare heritable traits. In the past, a standard deterministic model has been used to relate the incidence A of a trait to the mutation rate v. One use of such a model is estimation of the mutation rate from the incidence. Here the emphasis is on the potential variability of occurrence by introduction of stochastic elemen...
متن کاملThe Epidemiology of Rare Heritable Traits such as Split-Hand and Foot Malformation (SHFM)
The object of this paper is to describe a simple model of the occurrence of rare heritable traits. In the past, a standard deterministic model has been used to relate the incidence A of a trait to the mutation rate v. One use of such a model is estimation of the mutation rate from the incidence. Here the emphasis is on the potential variability of occurrence by introduction of stochastic elemen...
متن کاملSplit-hand/split-foot malformation associated with maternal valproate consumption.
Neurology India | June 2005 | Vol 53 | Issue 2 tions or consanguinity. Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod, presenting with syndactyly, median clefts in hand or foot and aplasia or hypoplasia of metacarpals or metatarsals. Failure to maintain median apical ectodermal ridge (AER) signaling is the main pathogenic mechanism for...
متن کاملDeletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families
BACKGROUND A growing number of non-coding regulatory mutations are being identified in congenital disease. Very recently also some exons of protein coding genes have been identified to act as tissue specific enhancer elements and were therefore termed exonic enhancers or "eExons". METHODS We screened a cohort of 134 unrelated families with split-hand/split-foot malformation (SHFM) with high r...
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