Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability

Human Molecular Genetics

Volumn 24, Issue 13, 2015, Pages 3708-3717

  Rosin, Nadine ^a   Elcioglu, Nursel H ^c   Beleggia, Filippo ^a   Isgüven, Pinar ^d   Altmüller, Janine ^a,b   Thiele, Holger ^b   Steindl, Katharina ^e   Joset, Pascal ^e   Rauch, Anita ^e   Nürnberg, Peter ^a,b   Wollnik, Bernd ^a   Yigit, Gökhan ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^d SAKARYA UNIVERSITY   (Turkey)

^e UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA PRECURSOR; XRCC4 PROTEIN; DNA BINDING PROTEIN; XRCC4 PROTEIN, HUMAN;

ADOLESCENT; ARTICLE; CASE REPORT; CELL DEATH; CHILD; CONTROLLED STUDY; DNA DAMAGE; DNA REPAIR; DOUBLE STRANDED DNA BREAK; EXON; FACE DYSMORPHIA; FEMALE; FIBROBLAST; GENE MUTATION; GENOMIC INSTABILITY; HUMAN; HUMAN CELL; INFANT; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN FUNCTION; PROTEIN STABILITY; RNA SPLICING; SCHOOL CHILD; SHORT STATURE; TURK (PEOPLE); BODY HEIGHT; GENETICS; PATHOPHYSIOLOGY; POINT MUTATION; TURKEY;

MAMMALIA;

ADOLESCENT; BODY HEIGHT; CHILD; DNA-BINDING PROTEINS; FEMALE; GENOMIC INSTABILITY; HUMANS; INFANT; MALE; MICROCEPHALY; PHENOTYPE; POINT MUTATION; TURKEY;

EID: 84936770284     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv115     Document Type: Article

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