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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Endocrinol Diabetes Metab Case Rep |
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| Κύριοι συγγραφείς: | , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Bioscientifica Ltd
2018
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| Θέματα: | |
| Διαθέσιμο Online: | 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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