X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

American Journal of Medical Genetics

Volumn 116, Issue 3, 2003, Pages 255-260

  Aughton, David J ^a   Kelley, Richard I ^a   Metzenberg, Aida ^a   Pureza, Vincent ^a   Pauli, Richard M ^a  

^a NONE

Author keywords

Bone dysplasia; Conradi H nermann syndrome; Happle syndrome; Sterol 8 7 isomerase; Stippled epiphyses

Indexed keywords

DELTA8,DELTA7 ISOMERASE; EMOPAMIL; EMOPAMIL BINDING PROTEIN; ISOMERASE; STEROL DERIVATIVE; UNCLASSIFIED DRUG;

ARTICLE; BONE DYSPLASIA; CALCIFYING CHONDRODYSTROPHY; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; GENE MUTATION; GENE STRUCTURE; HUMAN; MALE; MOSAICISM; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME DOMINANT INHERITANCE; X CHROMOSOME INACTIVATION;

EID: 0037221832     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10852     Document Type: Article

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