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Nonpenetrance

The state in which a genetic trait, although present in the appropriate genotype, fails to manifest itself in the phenotype (e.g., a woman with a… 
National Institutes of Health

Papers overview

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2014
2014
Split Hand/Foot Malformation with Long Bone Deficiency (SHFLD)
Split-hand/foot malformation (SHFM) occurs as an isolated trait, as a sporadic condition, or as part of a more complex syndromic… 
2009
2009
Von Willebrand's disease in an Icelandic family.
. In a family with von Willebrand's disease thirteen members, eight males and five females, had a history of excessive bleeding… 
2000
2000
A Case of Siblings with Vitamin-D Resistant Rickets and Ossification of Posterior Longitudinal Ligament
A case of siblings with Vitamin-D resistant rickets and OPLL is reported. One of the siblings was a 40-year-old male and the… 
1996
1996
Risk analysis.
Every genetic laboratory diagnosis carries some degree of uncertainty, even if only the risk of laboratory error. Increasingly… 
1986
1986
Identification of Dh/+ and Dh/Dh embryos through close linkage of Dh and peptidase-3.
The close linkage between the genes Dominant hemimelia (Dh) and peptidase-3 (Pep-3) has been determined in 65 informative matings… 
1976
1976
Occurrence of familial spastic paraplegia in only one of monozygous twins.
Three patients who suffer from spastic paraplegia are described who belong to two generations in one family. One of the patients…