Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder | Zendy

Douglas R. Stewart | Zendy; Hilde Brems | Zendy; Alicia Gomes | Zendy; Sarah L. Ruppert | Zendy; Tom Callens | Zendy; Jennifer Williams | Zendy; Kathleen Claes | Zendy; Michael B. Bober | Zendy; Rachel K. Hachen | Zendy; Leonard B. Kaban | Zendy; Hua Li | Zendy; Angela E. Lin | Zendy; Marie McDonald | Zendy; Serge B. Melançon | Zendy; June Ortenberg | Zendy; Heather B. Radtke | Zendy; Ignace Samson | Zendy; Robert A. Saul | Zendy; Joseph Shen | Zendy; Elizabeth Siqveland | Zendy; Tomi L. Toler | Zendy; Merel van Maarle | Zendy; Margaret R. Wallace | Zendy; Misti Williams | Zendy; Eric Legius | Zendy; Ludwine Messiaen | Zendy

Open Access

Jaffe–Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder

Author(s) -

Douglas R. Stewart,

Hilde Brems,

Alicia Gomes,

Sarah L. Ruppert,

Tom Callens,

Jennifer Williams,

Kathleen Claes,

Michael B. Bober,

Rachel K. Hachen,

Leonard B. Kaban,

Hua Li,

Angela E. Lin,

Marie McDonald,

Serge B. Melançon,

June Ortenberg,

Heather B. Radtke,

Ignace Samson,

Robert A. Saul,

Joseph Shen,

Elizabeth Siqveland,

Tomi L. Toler,

Merel van Maarle,

Margaret R. Wallace,

Misti Williams,

Eric Legius,

Ludwine Messiaen

Publication year - 2013

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2013.163

Subject(s) - neurofibromatosis , germline mutation , medicine , neurofibromatosis type i , dermatology , pathology , mutation , genetics , biology , gene

"Jaffe-Campanacci syndrome" describes the complex of multiple nonossifying fibromas of the long bones, mandibular giant cell lesions, and café-au-lait macules in individuals without neurofibromas. We sought to determine whether Jaffe-Campanacci syndrome is a distinct genetic entity or a variant of neurofibromatosis type 1.

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