Phenotype matters

Nature Genetics

Volumn 36, Issue 4, 2004, Pages 323-324

  Biesecker, Leslie G ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN; FILAMIN B; UNCLASSIFIED DRUG;

BONE DEVELOPMENT; BONE DYSPLASIA; FLNB GENE; GENE; GENE MUTATION; HUMAN; LARSEN SYNDROME; PRIORITY JOURNAL; SHORT SURVEY;

BONE DEVELOPMENT; CONTRACTILE PROTEINS; HUMANS; MICROFILAMENT PROTEINS; MUTATION; PHENOTYPE;

EID: 1842535886     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0404-323     Document Type: Short Survey

References (6)

1. Krakow, D. et al. Nat. Genet. 36, 405-410 (2004).
2. Robertson, S.P. et al. Nat. Genet. 33, 487-491 (2003).
3. Robin, N.H. & Biesecker, L.G. Genet. Med. 3, 290-293 (2001).
4. Taybi, H. & Lachman, R.S. Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias (Mosby, St. Louis, 1996).
5. Jones, K.L. Smith's Recognizable Patterns of Human Malformation (W B Saunders, Philadelphia, 1997).
6. , Spranger, J.W., Brill, P.W. & Poznanski, A.K. Bone Dysplasias: An Atlas of Genetic Disorders of Skeletal Development. (Oxford University Press, Oxford, 2002).