A novel mutation of HOXA13 in a family with hand-foot-genital syndrome and the role of polyalanine expansions in the spectrum of Müllerian fusion anomalies

Fertility and Sterility

Volumn 94, Issue 4, 2010, Pages 1235-1238

  Jorgensen, Elisa M ^a   Ruman, Jane I ^b   Doherty, Leo ^a   Taylor, Hugh S ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Hand foot genital syndrome; HOXA13; polyalanine expansion; uterovaginal septum

Indexed keywords

ALANINE DERIVATIVE; DNA; HOMEODOMAIN PROTEIN; POLYALANINE EXPANSION; PROTEIN HOXA 13; UNCLASSIFIED DRUG; HOMEOBOX PROTEIN HOXA13; PEPTIDE; POLYALANINE;

ARTICLE; CASE CONTROL STUDY; CLINICAL ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; FEMALE; GENE MUTATION; HAND FOOT GENITAL SYNDROME; HUMAN; MALE; MOLECULAR CLONING; MUELLERIAN DUCT; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; UNIVERSITY HOSPITAL; UTEROVAGINAL SEPTUM; UTERUS MALFORMATION; CASE REPORT; COMPLICATION; FAMILY; FOOT MALFORMATION; GENETICS; HAND MALFORMATION; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHYSIOLOGY; SYNDROME; TRINUCLEOTIDE REPEAT; UROGENITAL TRACT MALFORMATION;

CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; MULLERIAN DUCTS; MUTATION; PEDIGREE; PEPTIDES; SYNDROME; TRINUCLEOTIDE REPEAT EXPANSION; UROGENITAL ABNORMALITIES;

EID: 77951880604     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2009.05.057     Document Type: Article

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