The group of epidermal nevus syndromes

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

Danny Liaw, Jing Li, Patricia L. M. Dahia et al. · Nature Genetics · 1997 · 2.1K citations

Life Sciences, Genetics, Molecular Genetics +16

Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin

Rudolf Happle · Journal of the American Academy of Dermatology · 1987 · 556 citations

Life Sciences, Genetics, Molecular Genetics +16

Tumors arising in nevus sebaceus: A study of 596 cases☆, ☆☆

B. Cribier, Y Scrivener, E Grosshans · Journal of the American Academy of Dermatology · 2000 · 431 citations

Veterinary Medicine, Oncology, Pathology +12

The proteus syndrome

H. ‐R. Wiedemann, G. R. Burgio, P. Aldenhoff et al. · European Journal of Pediatrics · 1983 · 425 citations

Mutations in the NSDHL gene, encoding a 3?-hydroxysteroid dehydrogenase, cause CHILD syndrome

Arne K�nig, Rudolf Happle, Dorothea Bornholdt et al. · American Journal of Medical Genetics · 2000 · 298 citations

Life Sciences, Genetics, Molecular Genetics +17