Makale detayı · 2021
Clinical and Genetic Characteristics of Patients with Corticosterone Methyloxidase Deficiency Type 2: Novel Mutations in CYP11B2
Journal of Clinical Research in Pediatric Endocrinology
- Yıl
- 2021
- ISSN
1308-5727- Tür
- article
Veri kaynağı ayrımı
- YÖKSİS YÖKSİS makale kaydı
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Özet
İngilizce (OpenAlex)
gene which caused a frame shift, forming a stop codon. Corticosterone methyloxidase deficiency should be considered as a differential diagnosis in patients presenting with hyponatremia, hyperkalemia and growth retardation, and it should not be forgotten that this condition is life-threatening if untreated. Genetic analyses are helpful in diagnosis of the patients and their relatives. Family screening is important for an early diagnosis and treatment. In our cases, previously unreported novel variants were identified which are likely to be associated with the disease.
Konular
- Hormonal Regulation and Hypertension
- Birth, Development, and Health
- Adrenal Hormones and Disorders
Birincil konu Hormonal Regulation and Hypertension