Novel XRCC4 Mutations in an Infant With Microcephalic Primordial Dwarfism, Dilated Cardiomyopathy, Subclinical Hypothyroidism, and Early Death: Expanding the Phenotype Of XRCC4 Mutations
| Autor: | Fredette, Meghan E. *, Lombardi, Kristin C., Duker, Angela L., Buck, Catherine O., Phornphutkul, Chanika, Bober, Michael B., Quintos, Jose Bernardo |
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| Zdroj: | In AACE Clinical Case Reports January-February 2020 6(1):e1-e4 |
| Databáze: | ScienceDirect |
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