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Partial gonadal dysgenesis associated with a pathogenic variant of PBX1 transcription factor
A term neonate was admitted to the Neonatal Intensive Care Unit for respiratory distress, hypotonia and atypical genitalia. Significant findings included a small phallic structure, labial folds, no palpable gonads and two perineal openings. Pelvic ultrasound showed uterine didelphys and a gonad in t...
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| Publicado no: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6626438/ https://ncbi.nlm.nih.gov/pubmed/31302614 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2018-227986 |
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