Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature

Journal of Human Genetics

Volumn 60, Issue 9, 2015, Pages 553-556

  Fukami, Maki ^a   Naiki, Yasuhiro ^b   Muroya, Koji ^c   Hamajima, Takashi ^d   Soneda, Shun ^e   Horikawa, Reiko ^b   Jinno, Tomoko ^a   Katsumi, Momori ^a   Nakamura, Akie ^a,f   Asakura, Yumi ^c   Adachi, Masanori ^c   Ogata, Tsutomu ^g   Kanzaki, Susumu ^h  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^d AICHI CHILDREN'S HEALTH AND MEDICAL CENTER   (Japan)

^e ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f HOKKAIDO UNIVERSITY   (Japan)

^g HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^h TOTTORI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; DNA FRAGMENT; REPETITIVE DNA; SHOX PROTEIN; UNCLASSIFIED DRUG; HOMEODOMAIN PROTEIN; SHOX PROTEIN, HUMAN;

ADULT; ALU SEQUENCE; ARTICLE; CHILD; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA FLANKING REGION; EXON; FEMALE; GENE AMPLIFICATION; GENE IDENTIFICATION; HOMOLOGOUS RECOMBINATION; HUMAN; IDIOPATHIC DISEASE; MALE; MIDDLE AGED; PATHOGENICITY; PRESCHOOL CHILD; PROTEIN ANALYSIS; SCHOOL CHILD; SHORT STATURE; YOUNG ADULT; CASE CONTROL STUDY; CHONDRODYSPLASIA; DWARFISM; GENE DELETION; GENE DUPLICATION; GENE FREQUENCY; GENETICS; GROWTH DISORDER; INFANT;

3' FLANKING REGION; 5' FLANKING REGION; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; DWARFISM; FEMALE; GENE DUPLICATION; GENE FREQUENCY; GROWTH DISORDERS; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MIDDLE AGED; OSTEOCHONDRODYSPLASIAS; SEQUENCE DELETION; YOUNG ADULT;

EID: 84942789819     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.53     Document Type: Article

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