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Article

Myogenic tumors in nevoid Basal cell carcinoma syndrome.

Journal of pediatric hematology/oncology - 1 Mar 2015

Hettmer Simone, Teot Lisa A, Kozakewich Harry, Werger Annette M, Davies Kimberly J, Fletcher Christopher D M, Grier Holcombe E, Rodriguez-Galindo Carlos, Wagers Amy J

Abstract excerpt

In mice, activated Hedgehog (Hh) signaling induces tumors with myogenic differentiation. In humans, hyperactive Hh signaling due to germline PATCHED1 (PTCH1) mutations has been linked to nevoid basal cell carcinoma syndrome (NBCCS). We report an embryonal rhabdomyosarcoma in a 16-month-old girl with NBCCS and review the literature on myogenic neoplasms in NBCCS, including 8 fetal rhabdomyomas and 3...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24517962
DOI: 10.1097/MPH.0000000000000115
PMCID: PMC4127382

Genes

PTCH1

Provenance

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