LHX3 deficiency presenting in the United States with severe developmental delay in a child of Syrian refugee parents

In this case report, we present a novel mutation in Lim-homeodomain (LIM-HD) transcription factor, LHX3, manifesting as combined pituitary hormone deficiency (CPHD). This female patient was originally diagnosed in Egypt during infancy with Diamond Blackfan Anemia (DBA) requiring several blood transf...

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Detalles Bibliográficos
Autores principales: Ahern, Susan, Daniels, Mark, Bhangoo, Amrit
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280131/
https://www.ncbi.nlm.nih.gov/pubmed/30481152
http://dx.doi.org/10.1530/EDM-18-0079

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280131/
https://www.ncbi.nlm.nih.gov/pubmed/30481152
http://dx.doi.org/10.1530/EDM-18-0079

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