Advanced genetics
52,60 €
Idiopathic hypoparathyroidism with hypocalcemia, tetany, fasciculations and poor performance; it can cause synchronous diaphragmatic flutter (thumps), laryngeal spasms and seizures. A nonsense variant in RAPGEF5 is a candidate causal variant. Probably autosomal recessive inheritance. The test is complementary to clinical examination and the biochemical profile.
Idiopathic hypoparathyroidism with hypocalcemia, tetany, fasciculations and poor performance; it can cause synchronous diaphragmatic flutter (thumps), laryngeal spasms and seizures. A nonsense variant in RAPGEF5 is a candidate causal variant. Probably autosomal recessive inheritance. The test is complementary to clinical examination and the biochemical profile.
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