Gene mapping on Blepharophimosis Epicanthus Inversus and Ptosis syndrome type I in a Chinese family

Chinese Journal of Medical Genetics

Volumn 18, Issue 1, 2001, Pages 8-10

  Zhang, W ^a   Pang, H ^a   Shi, H ^a   Huang, S ^a  

^a INSTITUTE OF BASIC MEDICAL SCIENCES   (China)

Author keywords

Blepharophimosis; Chromosome 3; Epicanthus inversus; Gene mapping; Ptosis

Indexed keywords

ARTICLE; BLEPHAROPHIMOSIS; CHINESE; CHROMOSOME 3; DNA POLYMORPHISM; GENE LOCATION; GENE MAPPING; HUMAN; PATHOGENESIS; PEDIGREE ANALYSIS; PTOSIS;

ABNORMALITIES, MULTIPLE; BLEPHAROPHIMOSIS; BLEPHAROPTOSIS; CHROMOSOME MAPPING; HUMANS; LINKAGE (GENETICS); NOSE; POLYMORPHISM, GENETIC;

EID: 0035114190     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (8)

1. Epicanthus hereditaire
2. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23
3. Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies
4. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), a family of 11 cases
5. A novel Msp I polymorphic site at P20 region of dystrophin gene
6. Polymorphism of the STR sequence in PAH gene in Chinese population and its application
7. Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23
8. Blepharophimesis plus ovarian failure: A likely candidate for a contiguous gene syndrome