Skip to search formSkip to main contentSkip to account menu

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

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31.
PURPOSE Mutations at some retinitis pigmentosa (RP) loci are associated with variable penetrance and expressivity, exacerbating… 
2006
2006
Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11–q22.3
We identified a family where five members had nonsyndromic ectrodactyly. There were three known instances of nonpenetrance… 
2005
2005
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome
We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A>G… 
Review
2002
Review
2002
Genetics of restless legs syndrome.
Highly Cited
2002
Highly Cited
2002
Broad phenotypic spectrum caused by an identical heterozygous CDMP‐1 mutation in three unrelated families
CDMP‐1, a cartilage‐specific member of the TGFß superfamily of secreted signaling molecules, plays a key role in chondrogenesis… 
Review
2002
Review
2002
Fibular aplasia with ectrodactyly.
Fibular aplasia with split hand/foot or other defects of the central axis is a rare disorder that shares several characteristics… 
Review
2000
Review
2000
Preventive strategies and therapeutic options for hereditary pancreatitis.
1999
1999
A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.
OBJECTIVE To determine whether specific mutations within the fibroblast growth factor receptor 2 (FGFR2) gene that are associated… 
1987
1987
Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: further clinical delineation.
1987
1987
Thumb Polydactyly as a Part of the Range of Genetic Expression for Thenar Hypoplasia
Attempts to study the genetics of human thumb polydactyly have been hampered by lack of awareness of the extremely varied… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)