Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation

European Journal of Medical Genetics

Volumn 56, Issue 7, 2013, Pages 371-374

  Khan, Tahir Naeem ^a   Klar, J ^b   Ali, Zafar ^a   Khan, F ^a   Baig, S M ^a   Dahl, N ^b  

^a NATIONAL INSTITUTE FOR BIOTECHNOLOGY AND GENETIC ENGINEERING NIBGE   (Pakistan)

^b UPPSALA UNIVERSITY   (Sweden)

Author keywords

Cenani Lenz syndrome; Clinical expression; LRP4; Mutation

Indexed keywords

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

ADOLESCENT; ADULT; AGED; ARTICLE; CENANI LENZ SYNDROME; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; GENE; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; KIDNEY AGENESIS; KIDNEY HYPOPLASIA; KIDNEY MALFORMATION; LEG; LIMB MALFORMATION; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 4 GENE; MIDDLE AGED; MISSENSE MUTATION; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SYNDACTYLY; SYNOSTOSIS; VERY ELDERLY; YOUNG ADULT; AMINO ACID SEQUENCE; CASE REPORT; FEMALE; GENETICS; HOMOZYGOTE; KIDNEY; LOWER EXTREMITY DEFORMITIES, CONGENITAL; MALE; MOLECULAR GENETICS;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; CHILD; FEMALE; HOMOZYGOTE; HUMANS; KIDNEY; LDL-RECEPTOR RELATED PROTEINS; LOWER EXTREMITY DEFORMITIES, CONGENITAL; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SYNDACTYLY;

EID: 84892583374     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.04.007     Document Type: Article

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