Mutations of the AMH type II receptor in two extended families with persistent mllerian duct syndrome: Lack of phenotype/genotype correlation

Hormone Research in Paediatrics

Volumn 77, Issue 5, 2012, Pages 291-297

  Abduljabbar, Mohammad ^a   Taheini, Khalid ^a   Picard, Jean Yves ^b   Cate, Richard L ^b,c   Josso, Nathalie ^b  

^a DHAHRAN HEALTH CENTER   (Saudi Arabia)

^b INSERM   (France)

^c BOSTON UNIVERSITY   (United States)

Author keywords

Anti M llerian hormone; Disorder of sex development; M llerian inhibiting substance; Mutation; Persistent M llerian duct syndrome

Indexed keywords

ANTI MUELLERIAN HORMONE RECEPTOR TYPE II; MUELLERIAN INHIBITING FACTOR; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; EXON; EXTENDED FAMILY; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOTE; HUMAN; INFANT; MALE; MIDDLE EAST; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; PENETRANCE; PERSISTENT MULLERIAN DUCT SYNDROME; PRIORITY JOURNAL; PROTEIN DOMAIN; SEX DIFFERENTIATION DISORDER; SEXUAL DEVELOPMENT; STOP MUTATION;

46, XY DISORDERS OF SEX DEVELOPMENT; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANTI-MULLERIAN HORMONE; CHILD; CHILD, PRESCHOOL; CODON, TERMINATOR; CONSANGUINITY; CRYPTORCHIDISM; FEMALE; GENETIC ASSOCIATION STUDIES; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; RECEPTORS, PEPTIDE; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SEQUENCE ALIGNMENT; UTERUS;

EID: 84863322633     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000338343     Document Type: Article

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