A pathogenic variant (c.1483-1G>C) in a Korean patient with X-linked hypophosphatemic rickets
X-linked hypophosphatemic rickets is an X-linked dominantly inherited disorder characterized by defects in renal phosphate transport leading to phosphate wasting and hypophosphatemia. In this report, we describe a case of X-linked hypophosphatemic rickets in a patient with a rare pathogenic PHEX var...
Збережено в:
| Автори: | , , |
|---|---|
| Формат: | Книга |
| Опубліковано: |
Korean Society of Pediatric Endocrinology,
2021-06-01T00:00:00Z.
|
| Предмети: | |
| Онлайн доступ: | Connect to this object online. |
| Теги: |
Додати тег
Немає тегів, Будьте першим, хто поставить тег для цього запису!
|
Інтернет
Connect to this object online.3rd Floor Main Library
| Шифр: |
A1234.567 |
|---|---|
| Примірник 1 | Доступно |