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MEDIZINISCHE GENETIK, ISSN 1863-5490, 03/2016, Volume 28, Issue 1, pp. 15 - 36
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2016, Volume 90, Issue 4, pp. 334 - 342
Journal Article
Journal Article
Pigment Cell & Melanoma Research, ISSN 1755-1471, 05/2018, Volume 31, Issue 3, pp. 437 - 441
Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of... 
venous | malformation | mosaic | braf | neural crest | Genetic aspects | Genetic disorders | Epidermal cyst | Mole (Dermatology) | Pain | Cysts | Biopsy | Surgery | Nevus | Mutation | Hemorrhage | Trauma | Endothelial cells | Life Sciences | Human health and pathology | Genetics | Dermatology | Human genetics | Tissues and Organs
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 2018, Volume 64, Issue 2, pp. 177 - 181
Schimmelpenning syndrome is a rare neurocutaneous disorder categorized as a mosaic RASopathy due to postzygotic HRAS or KRAS mutations. We report a 6-year-old... 
MOSAIC ACTIVATING MUTATIONS | GENETICS & HEREDITY
Journal Article
PIGMENT CELL & MELANOMA RESEARCH, ISSN 1755-1471, 05/2018, Volume 31, Issue 3, pp. 437 - 441
Giant congenital melanocytic nevi may be symptomatically isolated or syndromic. Associations with capillary malformations are exceptional, and development of... 
venous | ONCOLOGY | neural crest | malformation | mosaic | braf | CELL BIOLOGY | DERMATOLOGY
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 7, pp. 1517 - 1524
Purpose: Kaposiform lymphangiomatosis (KLA) is a rare, frequently aggressive, systemic disorder of the lymphatic vasculature, occurring primarily in children.... 
mosaic | exome sequencing | vascular anomaly | lymphatic malformation | high-throughput sequencing | CODON 61 | RAS | CANCER | NEVI | BINIMETINIB | FEATURES | MELANOMA | GENETICS & HEREDITY | MUTATIONS | high throughput sequencing | Mosaic
Journal Article
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