Desbuquois dysplasia type i and fetal hydrops due to novel mutations in the CANT1 gene

European Journal of Human Genetics

Volumn 19, Issue 11, 2011, Pages 1133-1137

  Laccone, Franco ^a   Schoner, Katharina ^b   Krabichler, Birgit ^c   Kluge, Britta ^a   Schwerdtfeger, Robin ^d   Schulze, Bernt ^d   Zschocke, Johannes ^c,e   Rehder, Helga ^a,b  

^a MEDICAL UNIVERSITY OF VIENNA   (Austria)

^b PHILIPPS UNIVERSITY MARBURG   (Germany)

^c INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^d Center of Prenatal Diagnosis and Human Genetics   (Germany)

^e UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

CANT1 gene mutations; Desbuquois syndrome; fetal hydrops; haplotype analysis; skeletal dysplasia

Indexed keywords

ARTICLE; CANT1 GENE; CASE REPORT; CAUCASIAN; EXON; FEMALE; FETUS; FETUS HYDROPS; FRAMESHIFT MUTATION; GENE; GERMANY; GESTATION PERIOD; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LESSER TROCHANTER; LUNG HYPOPLASIA; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SIBLING RELATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AUTOPSY; CONSANGUINITY; CRANIOFACIAL ABNORMALITIES; DWARFISM; ELLIS-VAN CREVELD SYNDROME; FATAL OUTCOME; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; HYDROPS FETALIS; INFANT; INFANT, NEWBORN; JOINT INSTABILITY; MALE; MUTATION; NUCLEOTIDASES; OSSIFICATION, HETEROTOPIC; PHENOTYPE; POLYDACTYLY; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 80054824636     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.101     Document Type: Article

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