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Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
Case series Patients: 38, female • 28, female • 41, female • 18, female • 23, male Final Diagnosis: Woodhouse-Sakati syndrome Symptoms: Hypogonadism • dystonia • alopecia • hearing loss • diabetes Medication: — Clinical Procedure: — Specialty: Endocrinology and Metabolic OBJECTIVE: Rare disease BACK...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
International Scientific Literature, Inc.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5881453/ https://www.ncbi.nlm.nih.gov/pubmed/29574468 http://dx.doi.org/10.12659/AJCR.907395 |