Loss-of-function mutation in GATA4 causes anomalies of human testicular development. [electronic resource]
Producer: 20110426Description: 1597-602 p. digitalISSN:- 1091-6490
- Adolescent
- Amino Acid Sequence
- Cell Nucleus -- metabolism
- Child
- Child, Preschool
- DNA Mutational Analysis
- DNA-Binding Proteins -- metabolism
- Disorders of Sex Development -- complications
- Family Health
- Female
- Follow-Up Studies
- GATA4 Transcription Factor -- genetics
- Green Fluorescent Proteins -- genetics
- HEK293 Cells
- Heart Defects, Congenital -- complications
- Humans
- Infant, Newborn
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Protein Binding
- Sequence Homology, Amino Acid
- Steroidogenic Factor 1 -- metabolism
- Testis -- abnormalities
- Transcription Factors -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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