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Non-Classical Presentations of Rare Hereditary Hypoparathyroidism: A Case Series of CASR, GNA11 and GATA3 Mutations

delete2026-04-08
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PRE
AI
E
Ekaterina Bibik
K
Kamila Meirambek *
R
Rustam Salimkhanov
A
Anna Eremkina
S
Sergey Popov
E
Ekaterina Dobreva
M
M. Yu. Yukina
E
Ekaterina Troshina
N
Natalia Mokrysheva
DOI：10.1111/cen.70141delete
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Abstract

Abstract

En 中文
Hereditary hypoparathyroidism (hypoPT) is a rare endocrine disorder caused by absent or insufficient parathyroid hormone (PTH) secretion. Genetic forms are uncommon and frequently underdiagnosed, particularly when clinical onset is atypical.
Keywords:
autosomal dominant hypocalcemia
Barakat syndrome
CASR
GATA3
GNA11
hypoparathyroidism

Journal

Clinical Endocrinology cover
Clinical Endocrinology
IF:
2.4
Papers:
7.4K
Citations:
1.3W

Organization

E
endocrinology research centre
Scholars:
445
Papers: 240
Citations: 0
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