Partial androgen insensitivity syndrome with R840H mutation in androgen receptor: Report of one case

Acta Paediatrica Taiwanica

Volumn 46, Issue 2, 2005, Pages

  Yen, Jui Lung ^a   Chang, Kuang Huey ^a   Sheu, Jin Cherng ^b   Lee, Yann Jinn ^b,c   Tsai, Li Ping ^a  

^a Women's and Children's Hospital   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

^c TAIPEI MEDICAL UNIVERSITY   (Taiwan)

Author keywords

Ambiguous genitalia; Androgen receptor; Molecular analysis; Partial androgen insensitivity syndrome

Indexed keywords

TESTOSTERONE;

AMINO ACID SUBSTITUTION; ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CASE REPORT; GENETIC ANALYSIS; GENETIC COUNSELING; HETEROZYGOTE DETECTION; HUMAN; INFANT; MALE; MISSENSE MUTATION; PRENATAL DIAGNOSIS;

ANDROGEN-INSENSITIVITY SYNDROME; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FOLLICLE STIMULATING HORMONE; HUMANS; LUTEINIZING HORMONE; MALE; MUTATION, MISSENSE; PEDIGREE; POLYMERASE CHAIN REACTION; RECEPTORS, ANDROGEN; TESTOSTERONE; TREATMENT OUTCOME;

EID: 27744505064     PISSN: 16088115     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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