Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 94, Issue 11, 2012, Pages 912-917

  Ribeiro, Lucilene A ^a   Roessler, Erich ^b   Hu, Ping ^b   Pineda Alvarez, Daniel E ^b   Zhou, Nan ^b   Jones, Marypat ^b   Chandrasekharappa, Settara ^b   Richieri Costa, Antonio ^a   Muenke, Maximilian ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Alanine tract expansion or contraction; Holoprosencephaly; Poly histidine tract expansion; Polymorphism; ZIC2, mutation

Indexed keywords

ALANINE; HISTIDINE;

ADULT; ARTICLE; CHILD; CLEFT LIP; CLEFT PALATE; CLINICAL ARTICLE; COHORT ANALYSIS; DNA SEQUENCE; ETHNICITY; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HOLOPROSENCEPHALY; HUMAN; HYPOTELORISM; INCISOR; INTRON; MALE; MICROFORM; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; ALLELES; BRAZIL; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; CONTINENTAL POPULATION GROUPS; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HETEROZYGOTE; HISTIDINE; HOLOPROSENCEPHALY; HUMANS; MALE; MOLECULAR TYPING; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84869480730     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.23047     Document Type: Article

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