PMID: 6965910Mar 1, 1980Paper

Chromosome deletion and multiple cartilaginous exostoses

European Journal of Pediatrics
E M BühlerL P Jurik

Abstract

We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases of the TRP II previously thought to have had normal chromosomes.

References

Aug 1, 1977·The Journal of Pediatrics·E StoltzfusJ Lloyd-Still
Jan 1, 1977·Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde·S R AndersenM Warburg

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Citations

Jan 1, 1984·Human Genetics·R F StrattonD H Ledbetter
Oct 1, 1986·Human Genetics·J P Fryns, H Van den Berghe
Jan 1, 1983·Human Genetics·D V Zaletajev, G S Marincheva
Sep 1, 1982·European Journal of Pediatrics·C GaardstedU Friedrich
Sep 18, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lisa G ShafferTamim Shaikh
Jun 1, 1986·The Japanese Journal of Psychiatry and Neurology·S KazukawaS Maruyama
Oct 1, 1982·Journal of Medical Genetics·M FrontaliB Dallapiccola
Nov 1, 1988·Journal of Medical Genetics·S Wood
Jul 1, 1988·Journal of Medical Genetics·A Schinzel
Mar 1, 1989·Journal of Medical Genetics·S J FennellB Czepulkowski
Jan 1, 1981·Human Genetics·J P FrynsH Van den Berghe
Oct 15, 1986·Experientia·J de Grouchy, C Turleau
Aug 6, 2013·American Journal of Medical Genetics. Part a·Albert SchinzelAndres Giedion
Oct 24, 2008·Journal of Dental Research·P KantaputraP T Sharpe
May 15, 2008·American Journal of Medical Genetics. Part a·Stefano StagiFrancesco Chiarelli
Jan 1, 1980·American Journal of Medical Genetics·H ChenA Al Saadi
Nov 1, 1982·American Journal of Medical Genetics·R J GorlinL O Langer
Mar 1, 1982·American Journal of Medical Genetics·B U Zabel, W A Baumann
Feb 15, 1993·American Journal of Medical Genetics·F E MarchauJ E Dumon
Jul 1, 1987·Clinical Genetics·T OkunoS Nakao

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