Melorheostosis in a family with autosomal dominant osteopoikilosis: Report of a third family

American Journal of Medical Genetics

Volumn 119 A, Issue 2, 2003, Pages 188-193

  Debeer, Philippe ^a,b   Pykels, E ^a   Lammens, J ^a   Devriendt, K ^a   Fryns, J P ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b CENTER FOR HUMAN GENETICS   (Belgium)

Author keywords

Melorheostosis; Osteopoikilosis; Postzygotic mutation

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DISEASE; CASE REPORT; FAMILIAL DISEASE; GENE MUTATION; HUMAN; MALE; OSTEOSCLEROSIS; POSTZYGOTIC SECOND HIT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL;

GENETTA;

EID: 0041320836     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20072     Document Type: Article

References (16)

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