Aromatase deficiency: A novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization

Molecular and Cellular Endocrinology

Volumn 433, Issue , 2016, Pages 66-74

  Zhu, Wen Jiao ^a   Cheng, Tong ^a   Zhu, Hui ^a   Han, Bing ^a   Fan, Meng Xia ^a   Gu, Ting ^a   Zhao, Shuang Xia ^a   Liu, Yang ^a   Cheng, Kai Xiang ^a   Song, Huai Dong ^a   Qiao, Jie ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Aromatase deficiency; CYP19A1; Disorder of sexual development; Enzyme activity; Virilization

Indexed keywords

AROMATASE; AMINO ACID; CYP19A1 PROTEIN, HUMAN; TESTOSTERONE;

AROMATASE DEFICIENCY; ARTICLE; BIRTH WEIGHT; CASE REPORT; CATALYSIS; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; CYP19A1 GENE; DISEASE SEVERITY; ENZYME ACTIVITY; EXON; FEMALE; FRAMESHIFT MUTATION; FUNCTIONAL STATUS; GENE; GENE EXPRESSION PROFILING; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE; GONADAL DISEASE; HETEROZYGOSITY; HUMAN; HUMAN CELL; INTRON; MOLECULAR MODEL; MUTAGENESIS; PHENOTYPE; PRIORITY JOURNAL; RESTRICTION MAPPING; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; ALLELE; ASIAN CONTINENTAL ANCESTRY GROUP; DEFICIENCY; DISORDER OF SEX DEVELOPMENT; GENETICS; GYNECOMASTIA; HEK293 CELL LINE; HETEROZYGOTE; INBORN ERROR OF METABOLISM; MALE INFERTILITY; METABOLISM; MUTATION;

46, XX DISORDERS OF SEX DEVELOPMENT; ALLELES; AMINO ACIDS; AROMATASE; ASIAN CONTINENTAL ANCESTRY GROUP; EXONS; FEMALE; GENOTYPE; GYNECOMASTIA; HEK293 CELLS; HETEROZYGOTE; HUMANS; INFERTILITY, MALE; METABOLISM, INBORN ERRORS; MUTATION; PHENOTYPE; TESTOSTERONE; VIRILISM;

EID: 84973161596     PISSN: 03037207     EISSN: 18728057     Source Type: Journal    
DOI: 10.1016/j.mce.2016.05.025     Document Type: Article

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