UFD1L is not the monogenic basis for heart defects-associated with the CATCH phenotype [4]

Molecular Medicine Today

Volumn 6, Issue 1, 2000, Pages 14-

  Goodship, Judith A ^a   Burn, John ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; DISEASE ASSOCIATION; GENE DELETION; HEMIZYGOSITY; HUMAN; LETTER; MOUSE; NONHUMAN;

EID: 0033989901     PISSN: 13574310     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1357-4310(99)01637-8     Document Type: Letter

References (5)

1. Yamagishi H.et al. A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science. 283:1999;1158-1161.
2. Novelli G.et al. Individual haploinsufficient loci and the complex phenotype of the DiGeorge syndrome. Mol. Med. Today. 6:2000;10-11.
3. Lindsay E.A.et al. Congenital heart disease in mice deficient for the DiGeorge syndrome region. Nature. 401:1999;379-383.
4. Burn J., Goodship J.A. Congenital Heart Disease. Rimoin P.L.et al. Principles and Practice of Medical Genetics (3rd edn). 1996;767-828 Churchill Livingstone.
5. Burn J. Closing time for CATCH22. J. Med. Genet. 10:1999;737-738.