Clinical and genetic distinction of Schimke immuno-osseous dysplasia and cartilage-hair hypoplasia

American Journal of Medical Genetics, Part A

Volumn 146, Issue 15, 2008, Pages 2013-2017

  Baradaran Heravi, Alireza ^a   Thiel, Christian ^b   Rauch, Anita ^b   Zenker, Martin ^b   Boerkoel, Cornelius F ^a,d   Kaitila, Ilkka ^c  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^c UNIVERSITY OF HELSINKI   (Finland)

^d CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; GENOMIC DNA; HELICASE; MITOCHONDRIAL RNA PROCESSING ENDORIBONUCLEASE; MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE; RIBONUCLEASE; SMARCAL1 PROTEIN, HUMAN;

ALLELE; AUTOSOMAL RECESSIVE DISORDER; CARTILAGE HAIR HYPOPLASIA; CARTILAGE HYPOPLASIA; CELL CYCLE PROGRESSION; CELL PROLIFERATION; CELLULAR IMMUNITY; CHROMATIN; CLINICAL FEATURE; GENE MUTATION; GENETIC ANALYSIS; KIDNEY DISEASE; LETTER; OPPORTUNISTIC INFECTION; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; RISK FACTOR; SCHIMKE IMMUNO OSSEOUS DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA; ARTICLE; CHONDRODYSPLASIA; CHONDROPATHY; CONGENITAL MALFORMATION; GENETICS; HAIR; HUMAN; IMMUNE DEFICIENCY; MUTATION; SYNDROME;

CARTILAGE DISEASES; DNA HELICASES; ENDORIBONUCLEASES; HAIR; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MUTATION; OSTEOCHONDRODYSPLASIAS; SYNDROME;

EID: 49649107242     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32406     Document Type: Letter

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