Academic Journal
An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant
| العنوان: | An infant case of pseudohypoaldosteronism type1A caused by a novel NR3C2 variant |
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| المؤلفون: | Saki Noda, Kohei Aoyama, Yuto Kondo, Jun Okamura, Atsushi Suzuki, Naoya Yamaguchi, Aya Yoshida, Yoshishige Miyake |
| المصدر: | Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021) |
| بيانات النشر: | Nature Publishing Group, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Genetics LCC:Life |
| مصطلحات موضوعية: | Genetics, QH426-470, Life, QH501-531 |
| الوصف: | Abstract Pseudohypoaldosteronism type1A (PHA1A) is the renal form of pseudohypoaldosteronism with autosomal dominant inheritance. PHA1A is caused by haploinsufficiency of the mineralocorticoid receptor, which is encoded by NR3C2. We encountered an infant who was diagnosed with PHA1A due to hyponatremia, hyperkalemia, and poor weight gain in the neonatal period. She carried a novel heterozygous mutation (NM_000901.5: c.1757 + 1 G > C) in the splice donor site of IVS-2 in NR3C2. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2054-345X |
| Relation: | https://doaj.org/toc/2054-345X |
| DOI: | 10.1038/s41439-021-00173-7 |
| URL الوصول: | https://doaj.org/article/48738cc8ae42438ea96468fb74b264f7 |
| رقم الانضمام: | edsdoj.48738cc8ae42438ea96468fb74b264f7 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 2054345X |
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| DOI: | 10.1038/s41439-021-00173-7 |