+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Autosomal dominant Gillespie syndrome in 4 generations with highly variable expressivity and incomplete penetrance



Autosomal dominant Gillespie syndrome in 4 generations with highly variable expressivity and incomplete penetrance



American Journal of Human Genetics 65(4): A150




Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 034463200

Download citation: RISBibTeXText


Related references

Autosomal dominant Brachmann-de Lange syndrome Incomplete penetrance and variable expression. American Journal of Human Genetics 61(4 SUPPL ): A107, 1997

Familial microtia in four generations with variable expressivity and incomplete penetrance in association with type I syndactyly. Turkish Journal of Pediatrics 43(4): 362-365, 2002

Brachy/ectrodactyly and absence or hypoplasia of the fibula: an autosomal dominant condition with low penetrance and variable expressivity. Clinical Genetics 38(5): 321-326, 1990

Familial clustering of medullary sponge kidney is autosomal dominant with reduced penetrance and variable expressivity. Kidney International 83(2): 272-277, 2013

Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. American Journal of Ophthalmology 93(1): 57-70, 1982

Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records. Journal of Medical Genetics 29(12): 906-910, 1992

Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. American Journal of Medical Genetics 27(1): 233, 1987

Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. American Journal of Medical Genetics 25(1): 15-27, 1986

Autosomal dominant simple microphthalmos: incomplete penetrance and variable expression in a large family. Journal of Medical Genetics 32(4): 326, 1995

The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. Human Molecular Genetics 7(6): 945-957, 1998

Incomplete penetrance and variable expressivity: is there a microRNA connection?. Bioessays 31(9): 981-992, 2009

Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity. Clinical Genetics 30(6): 481-484, 1986

Craniosynostosis, ectopia lentis, and congenital heart defects: Further delineation of an autosomal dominant syndrome with incomplete penetrance. American Journal of Medical Genetics 107(1): 38-42, January 1, 2002

Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. American Journal of Ophthalmology 143(4): 656-662, 2007

The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity. American Journal of Medical Genetics 24(1): 41-55, 1986