A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male
- PMID: 22488807
- PMCID: PMC3331966
- DOI: 10.1002/ajmg.a.35293
A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male
References
-
- Allen EG, He W, Yadav-Shah M, Sherman SL. A study of the distributional characteristics of FMR1 transcript levels in 238 individuals. Hum Genet. 2004;114:439–447. - PubMed
-
- D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP. Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems. Eur J Med Genet. 2006;49:451–460. - PubMed
-
- Gotham K, Risi S, Pickles A, Lord C. The Autism Diagnostic Observation Schedule: revised algorithms for improved diagnostic validity. J Autism Dev Disord. 2007;37:613–627. - PubMed
-
- Hegde MR, Fawkner M, Chong B, McGaughran J, Gilbert D, Love DR. Compound heterozygosity at the FMR1 gene. Genet Test. 2001;5:135–138. - PubMed
Publication types
MeSH terms
Grants and funding
LinkOut - more resources
Full Text Sources
Medical