A homozygote frameshift mutation in OCLN gene result in Pseudo-TORCH syndrome type I: A case report extending the phenotype with central diabetes insipidus and renal dysfunction
| Autor: | Ekinci, Faruk, Yildizdas, Riza Dincer, Horoz, Ozden Ozgur, Herguner, Ozlem, Bisgin, Atil |
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| Zdroj: | In European Journal of Medical Genetics June 2020 63(6) |
| Databáze: | ScienceDirect |
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