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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Bioscientifica Ltd
2018
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| Materias: | |
| 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 |