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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...
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| Publicado no: | Endocrinol Diabetes Metab Case Rep |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Bioscientifica Ltd
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6280131/ https://ncbi.nlm.nih.gov/pubmed/30481152 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-18-0079 |
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