Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development

Journal of Medical Genetics

Volumn 52, Issue 4, 2015, Pages 240-247

  Kim, Gwang Jin ^a   Sock, Elisabeth ^b   Buchberger, Astrid ^c   Just, Walter ^d   Denzer, Friederike ^e   Hoepffner, Wolfgang ^f   German, James ^g   Cole, Trevor ^h   Mann, Jillian ⁱ   Seguin, John H ^j   Zipf, William ^k   Costigan, Colm ^l   Schmiady, Hardi ^m   Rostásy, Moritz ^a   Kramer, Mildred ^a   Kaltenbach, Simon ^a   Rösler, Bernd ^a   Georg, Ina ^a,n   Troppmann, Elke ^a   Teichmann, Anne Christin ^a   Salfelder, Anika ^a   Widholz, Sebastian A ^b   Wieacker, Peter ^o   Hiort, Olaf ^p   Camerino, Giovanna ^q   Radi, Orietta ^q   Wegner, Michael ^b   Arnold, Hans Henning ^c   Scherer, Gerd ^a   more..

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c TECHNICAL UNIVERSITY OF BRAUNSCHWEIG   (Germany)

^d UNIVERSITY OF ULM   (Germany)

^e UNIVERSITY HOSPITAL ULM   (Germany)

^f UNIVERSITY HOSPITAL LEIPZIG   (Germany)

^g Cornell University ^*  (United States)

^h UNIVERSITY DEPARTMENT OF MEDICINE   (United Kingdom)

ⁱ BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^j Medical Group of Ohio   (United States)

^k Central Ohio Pediatrics Endocrinology and Diabetes Services   (United States)

^l OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^m CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

ⁿ UNIVERSITY OF GRANADA   (Spain)

^o UNIVERSITY OF MÜNSTER   (Germany)

^p UNIVERSITY OF LÜBECK   (Germany)

^q Biologia Generale e Genetica Medica   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TESTIS DETERMINING FACTOR; TRANSCRIPTION FACTOR SOX9; SOX9 PROTEIN, HUMAN;

ANIMAL CELL; ARTICLE; CHROMOSOME ISOLATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DISORDER OF SEX DEVELOPMENT; EMBRYO; ENHANCER REGION; FAMILY STUDY; FEMALE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SERTOLI CELL; SEX DETERMINATION; ANIMAL; CELL LINE; COHORT ANALYSIS; GENETICS; PEDIGREE; REGULATORY SEQUENCE;

MUS;

ANIMALS; CELL LINE; COHORT STUDIES; DISORDERS OF SEX DEVELOPMENT; DNA COPY NUMBER VARIATIONS; FEMALE; HUMANS; MALE; MICE; PEDIGREE; REGULATORY SEQUENCES, NUCLEIC ACID; SOX9 TRANSCRIPTION FACTOR;

EID: 84929300014     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102864     Document Type: Article

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