Relationship between clinical and genetic diagnosis of Prader-Willi syndrome
Open Access
- 1 December 2002
- journal article
- letter
- Published by BMJ in Journal of Medical Genetics
- Vol. 39 (12), 926-932
- https://doi.org/10.1136/jmg.39.12.926
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
- Prevalence of, and risk factors for, physical ill-health in people with Prader-Willi syndrome: a population-based studyDevelopmental Medicine and Child Neurology, 2002
- The Changing Purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised CriteriaPEDIATRICS, 2001
- Population prevalence and estimated birth incidence and mortality rate for people with Prader-Willi syndrome in one UK Health RegionJournal of Medical Genetics, 2001
- Evaluation of methylation analysis for diagnostic testing in 258 referrals suspected of Prader-Willi or Angelman syndromesHuman Genetics, 1998
- Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndromeHuman Genetics, 1995
- DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.Journal of Medical Genetics, 1995
- Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromesHuman Genetics, 1988