Severe Cenani-Lenz syndrome caused by loss of LRP4 function

American Journal of Medical Genetics, Part A

Volumn 161, Issue 6, 2013, Pages 1475-1479

  Kariminejad, Ariana ^a   Stollfuß, Barbara ^b   Li, Yun ^b   Bögershausen, Nina ^b   Boss, Karin ^b   Hennekam, Raoul C M ^c   Wollnik, Bernd ^b  

^a Kariminejad Najmabadi Pathology and Genetics Center   (Iran)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Cenani Lenz syndrome; Limb development; LRP4; Oligodactyly; Syndactyly

Indexed keywords

ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CENANI LENZ SYNDROME; CHILD; CHROMOSOME 11; DENTAL CARIES; ECHOGRAPHY; ENAMEL HYPOPLASIA; FACE MALFORMATION; FOOT MALFORMATION; GENE; GENOTYPE PHENOTYPE CORRELATION; HAND MALFORMATION; HAPLOTYPE; HUMAN; KIDNEY AGENESIS; LIMB MALFORMATION; LOSS OF FUNCTION MUTATION; LRP4 GENE; MALE; NONSENSE MUTATION; OLIGODACTYLIA; PRIORITY JOURNAL; RESPIRATORY DISTRESS; STOP CODON; SYNDACTYLY; ABNORMALITIES, MULTIPLE; DNA SEQUENCE; GENETIC ASSOCIATION STUDY; GENETICS; HOMOZYGOTE; INFANT; LIMB DEFORMITIES, CONGENITAL; METABOLISM; PEDIGREE; PHENOTYPE; SIGNAL TRANSDUCTION;

LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; LRP4 PROTEIN, HUMAN; STOP CODON;

ABNORMALITIES, MULTIPLE; CODON, NONSENSE; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; INFANT; LDL-RECEPTOR RELATED PROTEINS; LIMB DEFORMITIES, CONGENITAL; MALE; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SIGNAL TRANSDUCTION; SYNDACTYLY;

EID: 84878262758     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35920     Document Type: Article

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