Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: From genotype to phenotype

European Journal of Human Genetics

Volumn 14, Issue 2, 2006, Pages 151-158

  Mavrogiannis, Lampros A ^a,e   Taylor, Indira B ^a   Davies, Sally J ^b   Ramos, Feliciano J ^c   Olivares, José L ^d   Wilkie, Andrew O M ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^c UNIVERSITY OF ZARAGOZA   (Spain)

^d HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

Craniosynostosis; Enlarged parietal foramina; Mental retardation; Proximal 11p deletion syndrome

Indexed keywords

HOMEODOMAIN PROTEIN; PROTEIN ALX4; TRANSCRIPTION FACTOR MSX2; UNCLASSIFIED DRUG;

AGE; CHILD; CHROMOSOME 11P; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; FAMILIAL DISEASE; FAMILY; FEMALE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HOMEOBOX; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL; REVIEW; SKULL MALFORMATION;

BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-BINDING PROTEINS; GENE DELETION; HOMEODOMAIN PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SKULL; TANDEM REPEAT SEQUENCES; TRANSCRIPTION FACTORS;

EID: 31344446614     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201526     Document Type: Review

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