Legius syndrome in fourteen families

Human Mutation

Volumn 32, Issue 1, 2011, Pages

  Denayer, Ellen ^a   Chmara, Magdalena ^a,b   Brems, Hilde ^a   Kievit, Anneke Maat ^c   Van Bever, Yolande ^c   Van Den Ouweland, Ans MW ^c   Van Minkelen, Rick ^c   De Goede Bolder, Arja ^c   Oostenbrink, Rianne ^c   Lakeman, Phillis ^d   Beert, Eline ^a   Ishizaki, Takuma ^e,f   Mori, Tomoaki ^e,f   Keymolen, Kathelijn ^g   Van Den Ende, Jenneke ^h   Mangold, Elisabeth ⁱ   Peltonen, Sirkku ^j   Brice, Glen ^k   Rankin, Julia ^l   Van Spaendonck Zwarts, Karin Y ^m   Yoshimura, Akihiko ^e,f   Legius, Eric ^a   more..

^a UNIVERSITY OF LEUVEN   (Belgium)

^b MEDICAL UNIVERSITY OF GDANSK   (Poland)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^g UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^h UNIVERSITY OF ANTWERP   (Belgium)

ⁱ UNIVERSITY OF BONN   (Germany)

^j TURKU UNIVERSITY HOSPITAL   (Finland)

^k ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^l ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^m UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

more..

Author keywords

Legius syndrome; NF1; Polydactyly; RAS MAPK pathway; SPRED1

Indexed keywords

PROTEIN SPRED 1; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CAFE AU LAIT SPOT; CENTRAL NERVOUS SYSTEM TUMOR; GENE MUTATION; HUMAN; HUMAN TISSUE; LEARNING DISORDER; LEGIUS SYNDROME; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEUROFIBROMA; NOONAN SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYDACTYLY; PREVALENCE; PRIORITY JOURNAL; WHITE MATTER;

ADOLESCENT; ADULT; AGED; BRAIN; CAFE-AU-LAIT SPOTS; CHILD; CHILD, PRESCHOOL; FEMALE; HEK293 CELLS; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NOONAN SYNDROME; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 78650475510     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21404     Document Type: Article

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