Evaluation of SHOX copy number variations in patients with Müllerian aplasia

Orphanet Journal of Rare Diseases

Volumn 6, Issue 1, 2011, Pages

  Sandbacka, Maria ^a,b   Halttunen, Mervi ^c   Jokimaa, Varpu ^d   Aittomäki, Kristiina ^a,c   Laivuori, Hannele ^b,e  

^a FOLKHÄLSAN INSTITUTE OF GENETICS   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d UNIVERSITY OF TURKU   (Finland)

^e UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; SHORT STATURE HOMEOBOX PROTEIN; UNCLASSIFIED DRUG; HOMEODOMAIN PROTEIN; SHOX PROTEIN, HUMAN;

APLASIA; ARTICLE; CHROMOSOME ABERRATION; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; FINLAND; GENE DELETION; GENE DUPLICATION; GENETIC POLYMORPHISM; GYNECOLOGIC DISEASE; HUMAN; MAJOR CLINICAL STUDY; MULLERIAN APLASIA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; CASE CONTROL STUDY; CONGENITAL DISORDER; CONGENITAL MALFORMATION; GENE DOSAGE; GENETICS; METHODOLOGY; MUELLERIAN DUCT; NUCLEIC ACID AMPLIFICATION; SEX DIFFERENTIATION DISORDER; UTERUS; VAGINA;

46, XX DISORDERS OF SEX DEVELOPMENT; CASE-CONTROL STUDIES; CONGENITAL ABNORMALITIES; DNA COPY NUMBER VARIATIONS; FEMALE; FINLAND; GENE DOSAGE; HOMEODOMAIN PROTEINS; HUMANS; MULLERIAN DUCTS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; UTERUS; VAGINA;

EID: 79960889717     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-6-53     Document Type: Article

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