دورية أكاديمية
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
| العنوان: | 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 |
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| المؤلفون: | Ekinci, Faruk, Yildizdas, Riza Dincer, Horoz, Ozden Ozgur, Herguner, Ozlem, Bisgin, Atil |
| المصدر: | In European Journal of Medical Genetics June 2020 63(6) |
| قاعدة البيانات: | ScienceDirect |
Full Text via ClinicalKey 
Full Text Finder | تدمد: | 17697212 |
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| DOI: | 10.1016/j.ejmg.2020.103923 |