doi: 10.1136/jmg.32.10.774.
Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24
Affiliations
- PMID: 8558553
- PMCID: PMC1051698
- DOI: 10.1136/jmg.32.10.774
Item in Clipboard
Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24
J Med Genet.
1995 Oct.
Abstract
Blepharophimosis-ptosis is an autosomal dominant disorder in which previous chromosome rearrangements have suggested a putative gene location on the long arm of chromosome 3. This paper confirms the location at 3q21-24 with linkage studies in two large families. A lod score of 3·2 was found with D3S1237.
Similar articles
-
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES).Acta Ophthalmol Scand. 1996 Feb;74(1):45-7. doi: 10.1111/j.1600-0420.1996.tb00680.x. Acta Ophthalmol Scand. 1996. PMID: 8689480 Review.
-
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly.Am J Med Genet. 1994 Aug 15;52(2):245. doi: 10.1002/ajmg.1320520228. Am J Med Genet. 1994. PMID: 7802022 Review. No abstract available.
-
Blepharophimosis-ptosis-epicanthus inversus syndrome.Pediatr Int. 2011 Jun;53(3):390-2. doi: 10.1111/j.1442-200X.2010.03223.x. Pediatr Int. 2011. PMID: 21696507 No abstract available.
-
Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).J Med Genet. 1994 Aug;31(8):647-8. doi: 10.1136/jmg.31.8.647. J Med Genet. 1994. PMID: 7815425 Free PMC article.
-
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.Hum Genet. 1995 Aug;96(2):213-5. doi: 10.1007/BF00207381. Hum Genet. 1995. PMID: 7635472
Cited by
-
Functional study on new FOXL2 mutations found in Chinese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.BMC Med Genet. 2018 Jul 20;19(1):121. doi: 10.1186/s12881-018-0631-8. BMC Med Genet. 2018. PMID: 30029625 Free PMC article.
-
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.Am J Hum Genet. 2003 Feb;72(2):478-87. doi: 10.1086/346118. Epub 2003 Jan 14. Am J Hum Genet. 2003. PMID: 12529855 Free PMC article.
-
Genetic analysis of the FOXL2 gene using quantitative real-time PCR in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome.Mol Vis. 2011 Feb 9;17:436-42. Mol Vis. 2011. PMID: 21321671 Free PMC article.
-
A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.J Med Genet. 1997 Sep;34(9):772-6. doi: 10.1136/jmg.34.9.772. J Med Genet. 1997. PMID: 9321768 Free PMC article. Review.
-
A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1.Am J Hum Genet. 1997 May;60(5):1150-7. Am J Hum Genet. 1997. PMID: 9150162 Free PMC article.
References
MeSH terms
LinkOut - more resources
Full Text Sources
Molecular Biology Databases
