Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features

Journal of Human Genetics

Volumn 57, Issue 3, 2012, Pages 207-211

  Yoneda, Yuriko ^a   Saitsu, Hirotomo ^a   Touyama, Mayumi ^b   Makita, Yoshio ^c   Miyamoto, Akie ^d   Hamada, Keisuke ^a   Kurotaki, Naohiro ^e   Tomita, Hiroaki ^f   Nishiyama, Kiyomi ^a   Tsurusaki, Yoshinori ^a   Doi, Hiroshi ^a   Miyake, Noriko ^a   Ogata, Kazuhiro ^a   Naritomi, Kenji ^g   Matsumoto, Naomichi ^a  

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

^b JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^c ASAHIKAWA MEDICAL COLLEGE   (Japan)

^d Hokkaido Asahikawa Habilitation Center for Disabled Children   (Japan)

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

^f TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^g UNIVERSITY OF THE RYUKYUS SCHOOL OF MEDICINE   (Japan)

Author keywords

DNA binding dimerization domain; missense mutation; NFIX; Sotos syndrome

Indexed keywords

NUCLEAR FACTOR I; NUCLEAR FACTOR I-X; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; DIMERIZATION; DNA BINDING; FEMALE; GENE; GENETIC IDENTIFICATION; HUMAN; JAPANESE; MALE; MISSENSE MUTATION; NSD1 GENE; SCHOOL CHILD; SOTOS SYNDROME; TRANSCRIPTION REGULATION;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; FACIES; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NFI TRANSCRIPTION FACTORS; PROTEIN MULTIMERIZATION; SEQUENCE ALIGNMENT; SOTOS SYNDROME; YOUNG ADULT;

EID: 84858982766     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.7     Document Type: Article

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