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cafe-au-lait spots

Wednesday 22 September 2004

Etiology

neurofibromatosis type 1 (NF1 germline mutations)
Rubinstein-Taybi syndrome
juvenile xanthogranuloma (11454088)
PMS2-associated syndromes

cutaneous cafe-au-lait spots (CALS) and early-onset supratentorial primitive neuroectodermal tumor (SPNET) with PMS2 mutations (MIM.608623) (15077197)