X-linked dominant chondrodysplasia punctata: A peroxisomal disorder?

American Journal of Medical Genetics

Volumn 78, Issue 3, 1998, Pages 300-302

  Wilson, Callum J ^a,b   Aftimos, Salim ^a  

^a STARSHIP CHILDREN S HOSPITAL   (New Zealand)

^b William Goodenough House   (United Kingdom)

Author keywords

Conradi Hunermann syndrome; Lyonisation; Peroxisomal disorder; X linked dominant chondrodysplasia punctata

Indexed keywords

ALLELE; ARTICLE; CALCIFICATION; CALCIFYING CHONDRODYSTROPHY; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; DISEASE ASSOCIATION; DISORDERS OF PEROXISOMAL FUNCTIONS; EPIPHYSIS DISEASE; FEMALE; GENE EXPRESSION; HUMAN; INFANT; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

CHONDRODYSPLASIA PUNCTATA; FEMALE; GENES, DOMINANT; HUMANS; ICHTHYOSIS, X-LINKED; INFANT, NEWBORN; LIMB DEFORMITIES, CONGENITAL; LINKAGE (GENETICS); MICROBODIES; PEROXISOMAL DISORDERS; POLYNESIA; SYNDROME; X CHROMOSOME;

EID: 0031750761     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980707)78:3<300::AID-AJMG19>3.0.CO;2-J     Document Type: Article

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