- Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita
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Serbis A, Tsinopoulou VR, Mouzaki K, Kotanidou , Giza S, Galli-Tsinopoulou A
- KMID: 2422482
- Ann Pediatr Endocrinol Metab.
- 2018 Sep;23(3):162-165.
- doi: 10.6065/apem.2018.23.3.162
X-linked adrenal hypoplasia congenita (AHC) is a rare disorder that usually presents clinically as adrenal insufficiency in early infancy. It is caused by mutations in the NR0B1 gene which is... -
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- Pseudohypoparathyroidism Type 1A with Normocalcaemia, due to the Novel C.389A>G Variant of Exon 5 of the Guanine Nucleotide-Binding Protein, α-Stimulating Gene
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Kotanidou EP, Tsinopoulou VR, Serbis A, Litou E, Galli-Tsinopoulou A
- KMID: 2513882
- J Bone Metab.
- 2021 Feb;28(1):85-89.
- doi: 10.11005/jbm.2021.28.1.85
Pseudohypoparathyroidism type 1A (PHP1A) is a rare disease caused by molecular defects in the maternally-inherited allele of the guanine nucleotide-binding protein, α-stimulating (GNAS) gene. The GNAS gene encodes the stimulatory... -
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