- Tytuł:
-
Extended pedigree with multiple cases of XX sex reversal in the absence of SRY and of a
mutation at the SOX9 locus. - Autorzy:
- Źródło:
- Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation [Sex Dev] 2007; Vol. 1 (1), pp. 24-34.
- Typ publikacji:
- Case Reports; Journal Article
- MeSH Terms:
-
Disorders of Sex Development*
Pedigree*
High Mobility Group Proteins/*geneticsMutation /*genetics
Sex-Determining Region Y Protein/*deficiency
Transcription Factors/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Cytogenetic Analysis ; Doublecortin Domain Proteins ; Female ; Gene Expression Regulation ; Haplotypes ; High Mobility Group Proteins/metabolism ; Hormones/blood ; Humans ; Male ; Microtubule-Associated Proteins/genetics ; Microtubule-Associated Proteins/metabolism ; Neuropeptides/genetics ; Neuropeptides/metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; SOX9 Transcription Factor ; Sex-Determining Region Y Protein/genetics ; Sex-Determining Region Y Protein/metabolism ; Testis/pathology ; Transcription Factors/metabolism
Czasopismo naukowe