Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology.
Hio Chung
HC
Kang
David A
DA
Quigley
Il-Jin
IJ
Kim
Yuichi
Y
Wakabayashi
Malcolm A
MA
Ferguson-Smith
Mariella
M
D'Alessandro
E
E
Birgitte Lane
Rosemary J
RJ
Akhurst
David R
DR
Goudie
Allan
A
Balmain
D002277:Carcinoma / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D007636:Keratoacanthoma / Q000208:ethnology / Q000235:genetics*; D000072079:Patched Receptors; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D000077293:Receptor, Transforming Growth Factor-beta Type I; D011956:Receptors, Cell Surface / Q000235:genetics; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics*; D012606:Scotland; D012871:Skin Diseases / Q000208:ethnology / Q000235:genetics*
D000072079:Patched Receptors; D011956:Receptors, Cell Surface; D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; C000625841:TGFBR1 protein, human