Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan

Clinical Genetics

Volumn 78, Issue 3, 2010, Pages 247-256

  Malik, S ^a   Kakar, N ^b   Hasnain, S ^a   Ahmad, J ^b   Wilcox, E R ^c   Naz, S ^a  

^a UNIVERSITY OF THE PUNJAB   (Pakistan)

^b BALOCHISTAN UNIVERSITY OF INFORMATION TECHNOLOGY   (Pakistan)

^c BRIGHAM YOUNG UNIVERSITY   (United States)

Author keywords

Cleft lip; Cleft palate; IRF6 mutations; Pakistan; Van der Woude syndrome

Indexed keywords

GENOMIC DNA; INTERFERON REGULATORY FACTOR 5; INTERFERON REGULATORY FACTOR 6;

ARTICLE; CARBOXY TERMINAL SEQUENCE; CLEFT LIP; CLEFT PALATE; CLINICAL EXAMINATION; CONTROLLED STUDY; FRAMESHIFT MUTATION; GENETIC EPIDEMIOLOGY; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PAKISTAN; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; POPULATION RESEARCH; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STABILITY; PROTEIN STRUCTURE; VAN DER WOUDE SYNDROME;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CLEFT LIP; CLEFT PALATE; CYSTS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; INTERFERON REGULATORY FACTORS; LIP; MALE; MUTATION; PAKISTAN; PEDIGREE; SYNDROME;

EID: 77955817287     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01375.x     Document Type: Article

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