Boston type craniosynostosis: Report of a second mutation in MSX2

American Journal of Medical Genetics, Part A

Volumn 161, Issue 10, 2013, Pages 2626-2633

  Florisson, Joyce M G ^a   Verkerk, Annemieke J M H ^b   Huigh, Daphne ^b   Hoogeboom, A Jeannette M ^b   Swagemakers, Sigrid ^b   Kremer, Andreas ^b   Heijsman, Daphne ^b   Lequin, Maarten H ^a   Mathijssen, Irene M J ^a   van der Spek, Peter J ^b  

^a SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Craniosynostosis; Genome sequencing; Linkage analysis; MSX2

Indexed keywords

CYTOSINE; LEUCINE; PROLINE; THYMINE; TRANSCRIPTION FACTOR MSX2;

ADOLESCENT; ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BRACHYCEPHALY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; EXON; FAMILY STUDY; FEMALE; FINGER MALFORMATION; GENETIC VARIABILITY; GENOME ANALYSIS; HAND RADIOGRAPHY; HUMAN; INFANT; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; MOUSE; MSX2 GENE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RAT; SCHOOL CHILD; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SKULL RADIOGRAPHY;

CRANIOSYNOSTOSIS; GENOME SEQUENCING; LINKAGE ANALYSIS; MSX2;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; FEMALE; GENETIC LINKAGE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; REPRODUCIBILITY OF RESULTS; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA; SKULL; YOUNG ADULT;

EID: 84884980917     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36126     Document Type: Article

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