Léri‐Weill syndrome as part of a contiguous gene syndrome at Xp22.3
- 23 April 1999
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 83 (5) , 367-371
- https://doi.org/10.1002/(sici)1096-8628(19990423)83:5<367::aid-ajmg5>3.0.co;2-k
Abstract
No abstract availableKeywords
This publication has 26 references indexed in Scilit:
- Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosisNature Genetics, 1998
- SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)Nature Genetics, 1998
- Are t(X;Y) (p22;q11) translocations in females frequently associated with Madelung deformity?Clinical Dysmorphology, 1997
- Chromosome arm painting probesNature Genetics, 1996
- Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism.Journal of Medical Genetics, 1993
- Specific metaphase and interphase detection of the breakpoint region in 8q24 of burkitt lymphoma cells by triple‐color fluorescence in situ hybridizationGenes, Chromosomes and Cancer, 1992
- Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletionsAmerican Journal of Medical Genetics, 1991
- A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a maleAmerican Journal of Medical Genetics, 1990
- Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X ChromosomeNew England Journal of Medicine, 1984
- Observations in a case of an X/Y translocation, t(X;Y)(p22;q11), in a mother and sonCytogenetic and Genome Research, 1980