Deletions in Xq28 in two boys with myotubular myopathy and abnormal genital development define a new contiguous gene syndrome in a 430 kb region

Human Molecular Genetics

Volumn 5, Issue 1, 1996, Pages 139-143

  Hu, Ling Jia ^a   Laporte, Jocelyn ^a   Kress, Wolfram ^b   Kioschis, Petra ^c   Siebenhaar, Renate ^c   Poustka, Annemarie ^c   Fardeau, Michel ^d   Metzenberg, Aida ^e   Janssen, Emiel A ^f   Thomas, Nick ^g   Mandel, Jean Louis ^a   Dahl, Niklas ^h  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d INSERM   (France)

^e CALIFORNIA STATE UNIVERSITY   (United States)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

^g CARDIFF UNIVERSITY   (United Kingdom)

^h UPPSALA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CHROMOSOME XQ; GENE DELETION; GENE MAPPING; GONAD DEVELOPMENT; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; MALE GENITAL TRACT MALFORMATION; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; SEXUAL DEVELOPMENT;

BASE SEQUENCE; CHROMOSOME MAPPING; CLONING, MOLECULAR; GENE DELETION; GENETIC MARKERS; GENITALIA, MALE; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; MUSCLE HYPOTONIA; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE TAGGED SITES; SEX CHROMOSOME ABERRATIONS; SYNDROME; X CHROMOSOME;

EID: 9044248231     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.1.139     Document Type: Article

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