"347686" . . . . . . . "Dvo\u0159\u00E1kov\u00E1, Hana Marie" . . "Fencl, Filip" . "Kolou\u0161kov\u00E1, Stanislava" . "[A0338F420E04]" . . "5" . . "5"^^ . "RIV/00216208:11130/09:5420!RIV10-MZ0-11130___" . . "RIV/00216208:11130/09:5420" . "Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene"@en . . . . . . . "Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene" . "168" . "Primary hyperparathyroidism; Hypercalcaemia; Newborn; Parathyroidectomy; Bisphosphonates; calcium-sensing receptor; benign hypocalciuric hypercalcemia; autosomal-dominant hypocalcemia; functional-characterization; polymorphisms"@en . "We present a male patient with neonatal severe primary hyperparathyroidism, whose manifestation was exceptionally serious for the heterozygous inactivating mutation he carried in the CASR gene. Genetic analysis revealed a heterozygous missense CASR mutation R185Q, and an approximately equal expression of the mutated and wild-type RNA in the parathyroid tissue. The mother of the child was homozygous for the wild-type allele; the father is unknown. In conclusion, this patient demonstrates how serious neonatal hyperparathyroidism can be when caused by a heterozygous mutation. This may be attributable to a combination of dominant-negative action of the mutant allele with an intrauterine foetal hyperparathyroidism developed in the mother's normocalcaemic environment, further aggravated by a putative maternal vitamin D deficiency during pregnancy." . . . . . "Z(MSM0021620814), Z(MSM0021620819), Z(MZ0FNM2005)" . . . . "We present a male patient with neonatal severe primary hyperparathyroidism, whose manifestation was exceptionally serious for the heterozygous inactivating mutation he carried in the CASR gene. Genetic analysis revealed a heterozygous missense CASR mutation R185Q, and an approximately equal expression of the mutated and wild-type RNA in the parathyroid tissue. The mother of the child was homozygous for the wild-type allele; the father is unknown. In conclusion, this patient demonstrates how serious neonatal hyperparathyroidism can be when caused by a heterozygous mutation. This may be attributable to a combination of dominant-negative action of the mutant allele with an intrauterine foetal hyperparathyroidism developed in the mother's normocalcaemic environment, further aggravated by a putative maternal vitamin D deficiency during pregnancy."@en . . "000264321100009" . . "Lebl, Jan" . "Banghov\u00E1, Karol\u00EDna" . "European Journal of Pediatrics" . "8"^^ . . "Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene"@en . . "0340-6199" . "Cinek, Ond\u0159ej" . . "Betka, Jan" . "Obermannov\u00E1, Barbora" . . "11130" . "9"^^ . . "Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene" . . "\u0160umn\u00EDk, Zden\u011Bk" . "DE - Spolkov\u00E1 republika N\u011Bmecko" .