Literature DB >> 2070549

Tuberous sclerosis in two sibs of normal parents.

H D Rott1, R Fahsold.   

Abstract

We report on a family with two sibs suffering from tuberous sclerosis. The parents were normal in all clinical tests including Wood's light examination of the skin, ophthalmoscopy, X-ray computerized tomography of brain, liver, and kidneys, cardiac echography and MR imaging of the brain. The most likely explanation is a germinal cell mosaic in one of the parents. A recurrence risk of 20 to 37% seems appropriate. The implications for risk assessment of sporadic cases are emphasized.

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Year:  1991        PMID： 2070549     DOI： 10.1111/j.1399-0004.1991.tb03031.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  4 in total

1.  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

2.  Renal involvement in tuberous sclerosis complex: a retrospective survey.

Authors:  L B Zimmerhackl; M Rehm; K Kaufmehl; G Kurlemann; M Brandis
Journal:  Pediatr Nephrol       Date:  1994-08       Impact factor: 3.714

3.  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

4.  RIPK1 Mediates TNF-Induced Intestinal Crypt Apoptosis During Chronic NF-κB Activation.

Authors:  Jerry Wong; Ricard Garcia-Carbonell; Matija Zelic; Samuel B Ho; Brigid S Boland; Shih-Jing Yao; Shalin A Desai; Soumita Das; Núria Planell; Philip A Harris; Joan Font-Burgada; Koji Taniguchi; John Bertin; Azucena Salas; Manolis Pasparakis; Pete J Gough; Michelle Kelliher; Michael Karin; Monica Guma
Journal:  Cell Mol Gastroenterol Hepatol       Date:  2019-10-10
  4 in total

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