The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report

BACKGROUND: It is important that multiple genetic diagnoses are not missed. This case report describes the clinical features and management of a patient with co-inheritance of Waardenburg syndrome type 4 or Waardenburg-Shah syndrome, an extremely rare disease, and homozygous sickle cell disease not...

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Detalles Bibliográficos
Autores principales: Rankine-Mullings, Angela E., Serjeant, Graham, Ramsay, Zachary, Hanchard, Neil A., Asnani, Monika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330566/
https://www.ncbi.nlm.nih.gov/pubmed/30636638
http://dx.doi.org/10.1186/s13256-018-1953-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330566/
https://www.ncbi.nlm.nih.gov/pubmed/30636638
http://dx.doi.org/10.1186/s13256-018-1953-z

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