Buschke-Ollendorff syndrome: a manifestation of a heterozygous nonsense mutation in the LEMD3 gene.
Gass
Julia K
JK
Hellemans
Jan
J
Mortier
Geert
G
Griffiths
Meryl
M
Burrows
Nigel P
NP
D002648:Child; D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; D020405:Dermis / Q000473:pathology*; D006579:Heterozygote; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010023:Osteopoikilosis / Q000235:genetics*; D013577:Syndrome
D018389:Codon, Nonsense; D004268:DNA-Binding Proteins; C405329:LEMD3 protein, human; D008565:Membrane Proteins; D009687:Nuclear Proteins