Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs-Reference-Cited by-同舟云学术

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs

Published:2005-04-17 Issue:5 Volume:37 Page:520-525
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Jadeja Shalini,Smyth Ian,Pitera Jolanta E,Taylor Martin S,van Haelst Mieke,Bentley Elizabeth,McGregor Lesley,Hopkins Jason,Chalepakis Georges,Philip Nicole,Perez Aytes Antonio,Watt Fiona M,Darling Susan M,Jackson Ian,Woolf Adrian S,Scambler Peter J

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1549.pdf

Reference15 articles.

1. Fraser, G.R. Our genetical 'load'. A review of some aspects of genetical variation. Annals of Human Genetics 25, 387–414 (1962).

2. Slavotinek, A.M. & Tifft, C.J. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J. Med. Genet. 39, 623–633 (2002).

3. McGregor, L. et al. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat. Genet. 34, 203–208 (2003).

4. Vrontou, S. et al. Fras1 deficiency results in cryptophthalmos, renal agenesis and blebbed phenotype in mice. Nat. Genet. 34, 209–214 (2003).

5. Darling, S. & Gossler, A. A mouse model for Fraser syndrome? Clin. Dysmorphol. 3, 91–95 (1994).

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