TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia

Orphanet Journal of Rare Diseases

Volumn 8, Issue 1, 2013, Pages

  Sandbacka, Maria ^a,b   Laivuori, Hannele ^b,c   Freitas, Érika ^d   Halttunen, Mervi ^c   Jokimaa, Varpu ^e   Morin Papunen, Laure ^f   Rosenberg, Carla ^d   Aittomäki, Kristiina ^a,c  

^a FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

^e UNIVERSITY OF TURKU   (Finland)

^f OULU UNIVERSITY HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FEMALE; FEMALE GENITAL TRACT MALFORMATION; GENE; GENE DELETION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; HETEROZYGOTE; HUMAN; INTRON; LHX1 GENE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MULLERIAN APLASIA; PATHOGENICITY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; TBX6 GENE;

46, XX DISORDERS OF SEX DEVELOPMENT; CONGENITAL ABNORMALITIES; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LIM-HOMEODOMAIN PROTEINS; MULLERIAN DUCTS; MUTATION; T-BOX DOMAIN PROTEINS; TRANSCRIPTION FACTORS;

EID: 84883118276     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-8-125     Document Type: Article

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