Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome [3]

American Journal of Medical Genetics

Volumn 130 A, Issue 1, 2004, Pages 106-

  Ikegawa, Shiro ^a  

^a RIKEN   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIFYING CHONDRODYSTROPHY; CASE REPORT; EBP GENE; GENE; GENE MUTATION; HUMAN; LETTER; PHENOTYPE; PRIORITY JOURNAL;

EID: 4344563208     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30182     Document Type: Letter

References (5)

1. Happle R. 2003. Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hunermann-Happle syndrome. Am J Med Genet 122A:279.
2. Ikegawa S, Ohashi H, Ogata T, Honda A, Tsukahara M, Kubo T, Kimizuka M, Shimode M, Hasegawa T, Nishimura G, Nakamura Y. 2000. Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata. Am J Med Genet 94:300-305.
3. Milunsky JM, Maher TA, Metzenberg AB. 2003a. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hünermann-Happle syndrome and a mutation in EBP. Am J Med Genet 116A:249-254.
4. Milunsky JM, Maher TA, Metzenberg AB. 2003b. Response to correspondence from Happle-"Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hunermann-Happle." Am J Med Genet 122A:280.
5. Shirahama S, Miyahara A, Kitoh H, Honda A, Kawase A, Yamada K, Mabuchi A, Kura H, Yokoyama Y, Tsutsumi M, Ikeda T, Tanaka N, Nishimura G, Ohashi H, Ikegawa S. 2003. Skewed X-chromosome in activation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata. Hum Genet 112:78-83.