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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2018-11-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM18-0079.xml |