Genotype and Phenotype Heterogeneity in Perrault Syndrome

Journal of Pediatric and Adolescent Gynecology

Volumn 26, Issue 1, 2013, Pages

  Kim, Min Jeong ^a   Kim, Sa Jin ^a   Kim, Jiyeon ^b   Chae, Hyojin ^a,b   Kim, Myungshin ^a,b   Kim, Yonggoo ^a,b  

^a The Catholic University of Korea   (South Korea)

^b The Catholic University of Korea   (South Korea)

Author keywords

Deafness; Gonadal dysgenesis; HARS2; HSD17B4; Perrault syndrome; PSMC3IP

Indexed keywords

CONJUGATED ESTROGEN;

ADOLESCENT; ARTICLE; CASE REPORT; CATARACT; COMPARATIVE GENOMIC HYBRIDIZATION; EXON; FEMALE; GENE AMPLIFICATION; GENE DOSAGE; GENETIC HETEROGENEITY; GENOTYPE; GONADAL DYSGENESIS; HUMAN; OVARY DISEASE; PERCEPTION DEAFNESS; PERRAULT SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SEXUAL DYSFUNCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

17-HYDROXYSTEROID DEHYDROGENASES; ADOLESCENT; AMINO ACYL-TRNA SYNTHETASES; FEMALE; GENETIC HETEROGENEITY; GENOTYPE; GONADAL DYSGENESIS; GONADAL DYSGENESIS, 46,XX; HEARING LOSS, SENSORINEURAL; HUMANS; HYDRO-LYASES; MUTATION; NUCLEAR PROTEINS; PEROXISOMAL MULTIFUNCTIONAL PROTEIN-2; PHENOTYPE; TRANS-ACTIVATORS;

EID: 84872472313     PISSN: 10833188     EISSN: 18734332     Source Type: Journal    
DOI: 10.1016/j.jpag.2012.10.008     Document Type: Article

References (9)

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