Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity

We describe two patients from distinct Cowden disease families with specific germline PTEN mutations whose disease differs from the usual appearance of Cowden disease. Their phenotype associates classical manifestations of Cowden disease and congenital dysmorphisms including segmental overgrowth, ar...

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Veröffentlicht in:	European journal of human genetics : EJHG 2007-07, Vol.15 (7), p.767-773
Hauptverfasser:	Caux, Frédéric, Plauchu, Henri, Chibon, Frédéric, Faivre, Laurence, Fain, Olivier, Vabres, Pierre, Bonnet, Françoise, Selma, Zied Ben, Laroche, Liliane, Gérard, Marion, Longy, Michel
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adolescent Adult Arteriovenous Malformations - genetics Arteriovenous Malformations - pathology Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Child Child, Preschool Cytogenetics Dermatology Female Fundamental and applied biological sciences. Psychology Gene Expression General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Germ-Line Mutation Hamartoma Syndrome, Multiple - genetics Hamartoma Syndrome, Multiple - pathology Human Genetics Humans Infant Infant, Newborn Lipomatosis - genetics Medical genetics Medical sciences Middle Aged Molecular and cellular biology Mutation, Missense Nevus - genetics Nevus - pathology Pedigree PTEN Phosphohydrolase - deficiency PTEN Phosphohydrolase - genetics Syndrome Tumors of the skin and soft tissue. Premalignant lesions
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