Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/wiley/further-delineation-of-wittwer-syndrome-and-refinement-of-the-mapping-GR0EAGyHNw
References (8)
-
Bärbel Wittwer, R. Kircheisen, J. Leutelt, U. Orth, Andreas Gal (1996)
New X-linked mental retardation syndrome with the gene mapped tentatively in Xp22.3.American journal of medical genetics, 64 1
-
C. Carestia, L. Pagano, G. Lacerra, G. Fioretti, M. Angioletti, C. Bonis, L. Rosa (1991)
β-globin gene framework variant: an African type?Nucleic Acids Research, 19
-
R. Stevenson (2000)
Splitting and lumping in the nosology of XLMR.American journal of medical genetics, 97 3
-
Shirley Miller, D. Dykes, H. Polesky (1988)
A simple salting out procedure for extracting DNA from human nucleated cells.Nucleic acids research, 16 3
-
L. Hilliard (1964)
The Biology of Mental DefectMental Health, 23
-
H. Lubs, P. Chiurazzi, J. Arena, C. Schwartz, L. Tranebjaerg, G. Neri (1996)
XLMR genes: update 1996.American journal of medical genetics, 64 1
-
R. Allen, H. Zoghbi, A. Moseley, H. Rosenblatt, J. Belmont (1992)
Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.American journal of human genetics, 51 6
-
A. Ballabio, B. Bardoni, R. Carrozzo, G. Andria, D. Bick, L. Campbell, B. Hamel, M. Ferguson-Smith, G. Gimelli, M. Fraccaro (1989)
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.Proceedings of the National Academy of Sciences of the United States of America, 86 24
- Publisher
- Wiley
- Copyright
- Copyright © 2003 Wiley Subscription Services, Inc., A Wiley Company
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- DOI
- 10.1002/ajmg.a.10874
- pmid
- 12476452
- Publisher site
- See Article on Publisher Site
Abstract
In 1996, Wittwer et al. described a XLMR‐syndrome mapping in Xp22.3. This family was reexamined. The spectrum of clinical symptoms now includes progressive skeletal lesions with osteoplastic and osteoclastic changes. Haplotype analysis using 23 microsatellite markers on Xp22 localized the disease locus between DXS8095 and DXS7108 comprising 3.9–6.1 Mb. This interval overlaps with known contiguous gene‐deletion syndromes. However, deletion analysis of identified genes and ESTs in the critical interval for Wittwer syndrome showed no loss of the corresponding marker sequences in the patients. © 2002 Wiley‐Liss, Inc.
Journal
American Journal of Medical Genetics Part A – Wiley
Published: Jan 1, 2003
Keywords: ; ; ;