Literature DB >> 3981577

Reduced penetrance in tuberous sclerosis.

M Baraitser, M A Patton.   

Abstract

Two first cousins are reported with clinical evidence of tuberous sclerosis. The intervening brother and sister show no evidence of the disease on clinical and Wood's lamp examination, nor on CT scan.

Entities:  

Mesh：

Year:  1985        PMID： 3981577      PMCID： PMC1049373          DOI： 10.1136/jmg.22.1.29

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  2 in total

1.  Inheritance of tuberous sclerosis.

Authors:  R B Lowry; H G Dunn; R P Paris
Journal:  Lancet       Date:  1979-01-27       Impact factor: 79.321

2.  The incidence and significance of birthmarks in a cohort of 4,641 newborns.

Authors:  J C Alper; L B Holmes
Journal:  Pediatr Dermatol       Date:  1983-07       Impact factor: 1.588
  2 in total
  5 in total

1.  Genetic aspects of tuberous sclerosis in the west of Scotland.

Authors:  J R Sampson; S J Scahill; J B Stephenson; L Mann; J M Connor
Journal:  J Med Genet       Date:  1989-01       Impact factor: 6.318

2.  High rate of mosaicism in tuberous sclerosis complex.

Authors:  S Verhoef; L Bakker; A M Tempelaars; A L Hesseling-Janssen; T Mazurczak; S Jozwiak; A Fois; G Bartalini; B A Zonnenberg; A J van Essen; D Lindhout; D J Halley; A M van den Ouweland
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

3.  Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis.

Authors:  L I al-Gazali; R J Arthur; J T Lamb; H M Hammer; T P Coker; P N Hirschmann; J Gibbs; R F Mueller
Journal:  J Med Genet       Date:  1989-11       Impact factor: 6.318

4.  Non-penetrance in tuberous sclerosis.

Authors:  D W Webb; J P Osborne
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

5.  Variability of expression in tuberous sclerosis.

Authors:  H Northrup; J W Wheless; T K Bertin; R A Lewis
Journal:  J Med Genet       Date:  1993-01       Impact factor: 6.318
  5 in total

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