A novel X-linked phenotype caused by hypomorphic EBP mutations

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1770-1771

  Happle, Rudolf ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; CONRADI HUNERMANN HAPPLE SYNDROME; DANDY WALKER SYNDROME; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EAR DISEASE; ECTOPIC KIDNEY; EYE MALFORMATION; FAILURE TO THRIVE; GENE MUTATION; HUMAN; LEG MUSCLE; LETTER; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; OPISTHOTONUS; OTOSCLEROSIS; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MUTATION; PREGNANCY; STEROID ISOMERASES;

EID: 79959509836     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33988     Document Type: Letter

References (6)

1. Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF. 2010. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J Med Genet Part A 152A:2838-2844.
2. Happle R. 2003. Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome. Am J Med Genet Part A 122A:279.
3. Ikegawa S. 2004. Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome. Am J Med Genet Part A 130A:106.
4. Kelley RI, Maegawa GHB, Leite JCL, Kratz LE. 2005. The male with Conradi-Hünermann syndrome (CDPX2): A distinct phenotype. Proc Greenwood Genet Center 24:95-996.
5. 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-Hunermann-Happle syndrome and a mutation in EBP. Am J Med Genet Part A 116A:249-254.
6. 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 Part A 122A:280.