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- Title
Trichorhinophalangeal syndrome type II due to a novel 8q23.3-q24.12 deletion associated with imperforate hymen and vaginal stenosis.
- Authors
Plaza‐Benhumea, L.; Valdes‐Miranda, J.M.; Toral‐López, J.; Pérez‐Cabrera, A.; Cuevas‐Covarrubias, S.
- Abstract
The article describes the case of a 19-year-old Mexican woman with trichorhinopalangeal syndrome type II (TRPS II) and imperforate hymen, severe vaginal stenosis and haematometra. Topics discussed include the characteristics of TRPS II, findings of blood and urine analyses and the clinical management of the patient.
- Subjects
HYMEN (Gynecology); TEENAGE girls; SKIN diseases; DISEASES
- Publication
British Journal of Dermatology, 2014, Vol 171, Issue 6, p1581
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/bjd.13177