Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome

American Journal of Medical Genetics

Volumn 122 A, Issue 3, 2003, Pages 279-

  Happle, Rudolf ^a   Milunsky, J M ^b   Maher, T A ^b   Metzenberg, A B ^c  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c CALIFORNIA STATE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; CALCIFYING CHONDRODYSTROPHY; CASE REPORT; CHILD; CHONDRODYSPLASIA PUNCTATA; EBP GENE; GENE; GENE MUTATION; HUMAN; LETTER; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; RADIOGRAPHY; X CHROMOSOME DOMINANT DISORDER;

EID: 0141746287     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20324     Document Type: Letter

References (0)