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

Genetics in Medicine

Volumn 16, Issue 6, 2014, Pages 448-459

  Stewart, Douglas R ^a   Brems, Hilde ^b,c   Gomes, Alicia G ^d   Ruppert, Sarah L ^e   Callens, Tom ^d   Williams, Jennifer ^d   Claes, Kathleen ^f   Bober, Michael B ^g   Hachen, Rachel ^h   Kaban, Leonard B ⁱ   Li, Hua ^j   Lin, Angela ⁱ   McDonald, Marie ^k   Melancon, Serge ^l   Ortenberg, June ^l   Radtke, Heather B ^m   Samson, Ignace ^c   Saul, Robert A ⁿ   Shen, Joseph ^o   Siqveland, Elizabeth ^p   Toler, Tomi L ⁱ   Van Maarle, Merel ^q   Wallace, Margaret ^j   Williams, Misti ^r   Legius, Eric ^b,c   Messiaen, Ludwine ^d   more..

^a NATIONAL CANCER INSTITUTE   (United States)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^d UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

^g NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^h CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

ⁱ MASSACHUSETTS GENERAL HOSPITAL   (United States)

^j UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

^k DUKE UNIVERSITY MEDICAL CENTER   (United States)

^l MONTREAL CHILDREN S HOSPITAL   (Canada)

^m CHILDREN S HOSPITAL OF WISCONSIN   (United States)

ⁿ GREENWOOD GENETIC CENTER   (United States)

^o CHILDREN S HOSPITAL CENTRAL CALIFORNIA   (United States)

^p CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^q ACADEMIC MEDICAL CENTER   (Netherlands)

^r LewisGale Cardiology   (United States)

more..

Author keywords

caf au lait macule; giant cell lesion; Jaffe Campanacci syndrome; neurofibromatosis type 1; nonossifying fibroma

Indexed keywords

NEUROFIBROMIN; GNAS PROTEIN, HUMAN; MEMBRANE PROTEIN; SIGNAL PEPTIDE; SPRED1 PROTEIN, HUMAN; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN;

ARTICLE; CELL CULTURE; EXON; FIBROMA; GENE MUTATION; GIANT CELL; HUMAN; JAFFE CAMPANACCI SYNDROME; NEUROFIBROMATOSIS; ADOLESCENT; ADULT; BONE TUMOR; CAFE AU LAIT SPOT; CHILD; FEMALE; GENETICS; GERMLINE MUTATION; INFANT; MALE; NEUROFIBROMATOSIS 1; PATHOLOGY; PRESCHOOL CHILD; SEX RATIO; YOUNG ADULT;

ADOLESCENT; ADULT; BONE NEOPLASMS; CAFE-AU-LAIT SPOTS; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROMA; GERM-LINE MUTATION; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; SEX RATIO; YOUNG ADULT;

EID: 84902083515     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.163     Document Type: Article

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