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CGI-58/ABHD5 gene is mutated in Dorfman-Chanarin syndrome.
Am J Med Genet A. 2004 Aug 30;129A(2):214. doi: 10.1002/ajmg.a.30228.
Am J Med Genet A. 2004.
PMID: 15316960
No abstract available.
Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.
Caux F, Plauchu H, Chibon F, Faivre L, Fain O, Vabres P, Bonnet F, Selma ZB, Laroche L, Gérard M, Longy M.
Caux F, et al. Among authors: selma zb.
Eur J Hum Genet. 2007 Jul;15(7):767-73. doi: 10.1038/sj.ejhg.5201823. Epub 2007 Mar 28.
Eur J Hum Genet. 2007.
PMID: 17392703
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