The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants

Hormone Research in Paediatrics

Volumn 75, Issue 1, 2011, Pages 26-31

  Nishi, Mirian Yumie ^a   Costa, Elaine Maria Frade ^a   Oliveira, Suely Beirão ^a   Mendonca, Berenice Bilharinho ^a   Domenice, Sorahia ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Mixed gonadal dysgenesis; SRY mutation; Turner syndrome; Y chromosome material

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ADULT; ARTICLE; BLOOD ANALYSIS; CHILD; CHROMOSOME ABERRATION; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; COHORT ANALYSIS; DNA EXTRACTION; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOMICS; GONAD; GONADAL DYSGENESIS; HUMAN; KARYOTYPE 45,X; KARYOTYPE 46,XY; LEUKOCYTE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEXUAL DEVELOPMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SRY GENE; Y CHROMOSOME;

EID: 79151478925     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000316536     Document Type: Article

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