Molecular diagnosis of apert syndrome in chinese patients

Acta Paediatrica Taiwanica

Volumn 40, Issue 1, 1999, Pages 31-33

  Tsai, Fuu Jen ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Apert syndrome; Chinese; Direct sequencing; Molecular diagnosis; Restriction analysis

Indexed keywords

ACROCEPHALOSYNDACTYLY; ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL MEDICINE; CRANIOFACIAL SYNOSTOSIS; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INCIDENCE; NUCLEIC ACID BASE SUBSTITUTION; RESTRICTION MAPPING;

ACROCEPHALOSYNDACTYLIA; FEMALE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 0033064429     PISSN: 16088115     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (3)

1. Blank CE. Apert's syndrome (a type of acrocephalosyndactyly): observations on a British series of thirtynine cases. Ann Hum Genet 1960; 24:151-64.
2. Cohen MM Jr. Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability and new syndrome updating. Birth Defects 1979; 15:13-63.
3. Cohen MM Jr, Kreiborg S, Lammer EJ, et al. Birth prevalence study of the Apert syndrome. Am J Med Genet 1992; 42:655-9.