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...

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Detalles Bibliográficos
Autores principales: Almeqdadi, Mohammad, Kemppainen, Jennifer L., Pichurin, Pavel N., Gavrilova, Ralitza H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2018
Materias:
Articles
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

Internet

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

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