Nevo syndrome with an NSD1 deletion: A variant of Sotos syndrome?

American Journal of Medical Genetics

Volumn 140 A, Issue 1, 2006, Pages 70-73

  Kanemoto, Nobuko ^a   Kanemoto, Katsuyoshi ^a   Nishimura, Gen ^b   Kamoda, Tomohiro ^c   Visser, Remco ^d,e,f,g   Shimokawa, Osamu ^d,g,i   Matsumoto, Naomichi ^g,h  

^a Ibaraki Seinan Medical Center Hospital   (Japan)

^b TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^c UNIVERSITY OF TSUKUBA   (Japan)

^d NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f 21st Century Center of Excellence   (Japan)

^g JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^h YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

ⁱ Kyushu Medical Science Nagasaki Laboratory   (Japan)

Author keywords

Microdeletion; Nevo syndrome; NSD1; Overgrowth; Sotos syndrome

Indexed keywords

GENE PRODUCT; NUCLEAR RECEPTOR BINDING SET DOMAIN PROTEIN 1; UNCLASSIFIED DRUG;

ARTICLE; BRAIN; CARDIOVASCULAR SYSTEM; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; FEMALE; GENE DELETION; GENE MUTATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; HUMAN CELL; HYDRONEPHROSIS; NEVO SYNDROME; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; SOTOS SYNDROME; URINARY TRACT MALFORMATION; VESICOURETERAL REFLUX;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 5; FEMALE; GENE DELETION; GROWTH DISORDERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; NUCLEAR PROTEINS; SYNDROME;

EID: 30144444606     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.30776     Document Type: Article

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