Terminal deletion of Xp22.3 associated with contiguous gene syndrome: Léri‐Weill dyschondrosteosis, developmental delay, and ichthyosis
- 8 March 2001
- journal article
- letter
- Published by Wiley in American Journal of Medical Genetics
- Vol. 99 (4) , 331-334
- https://doi.org/10.1002/1096-8628(20010401)99:4<331::aid-ajmg1175>3.0.co;2-w
Abstract
No abstract availableThis publication has 9 references indexed in Scilit:
- Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation.Clinical Genetics, 2008
- Léri‐Weill syndrome as part of a contiguous gene syndrome at Xp22.3American Journal of Medical Genetics, 1999
- Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.Journal of Medical Genetics, 1998
- Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosisNature Genetics, 1998
- SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)Nature Genetics, 1998
- 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
- Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locusAmerican Journal of Medical Genetics, 1993
- Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiencyAmerican Journal of Medical Genetics, 1991
- Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.Proceedings of the National Academy of Sciences, 1989