Response to Happle a novel X linked phenotype caused by hypomorphic EBP mutation

American Journal of Medical Genetics, Part A

Volumn 155, Issue 7, 2011, Pages 1772-

  Rope, Alan F ^a   Carey, John C ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHILD DEATH; CONGENITAL HEART MALFORMATION; DANDY WALKER SYNDROME; GENE MUTATION; HUMAN; HYDROCEPHALUS; LETTER; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

EID: 79959531528     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34089     Document Type: Letter

References (3)

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. Kelley RI, Maegawa GHB, Leite JCL, Kratz LE. 2005. The male with Conradi-Hünermann syndrome (CDPX2): A distinct phenotype. Proc Greenwood Genet Center 24: 95-96.
3. Milunsky JM, Maher TA, Metzenberg AB. 2003. 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.