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Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia.

作者信息

Levine M A, Jap T S, Hung W

出版信息

J Pediatr. 1985 Dec;107(6):919-22. doi: 10.1016/s0022-3476(85)80189-x.

DOI:10.1016/s0022-3476(85)80189-x
PMID:3934357
Abstract
摘要

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1
Infantile hypothyroidism in two sibs: an unusual presentation of pseudohypoparathyroidism type Ia.
J Pediatr. 1985 Dec;107(6):919-22. doi: 10.1016/s0022-3476(85)80189-x.
2
Activity of the stimulatory guanine nucleotide-binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds.假性甲状旁腺功能减退症和假假性甲状旁腺功能减退症患者红细胞中刺激性鸟嘌呤核苷酸结合蛋白的活性降低：六个家系中奥尔布赖特遗传性骨营养不良的生化、内分泌和遗传学分析
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3
Albright hereditary osteodystrophy with hypothyroidism, normocalcemia, and normal Gs protein activity: a family presenting with congenital osteoma cutis.伴有甲状腺功能减退、血钙正常及Gs蛋白活性正常的奥尔布赖特遗传性骨营养不良：一个伴有先天性皮肤骨瘤的家系
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Albright's hereditary osteodystrophy: a review.奥尔布赖特遗传性骨营养不良症综述
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[Familial occurrence of pseudohypoparathyroidism and pseudopseudohypoparathyroidism].[假性甲状旁腺功能减退症和假假性甲状旁腺功能减退症的家族性发病情况]
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Father to son transmission of decreased Ns activity in pseudohypoparathyroidism type Ia.
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An inherited mutation associated with functional deficiency of the alpha-subunit of the guanine nucleotide-binding protein Gs in pseudo- and pseudopseudohypoparathyroidism.一种与假性和假假性甲状旁腺功能减退症中鸟嘌呤核苷酸结合蛋白Gs的α亚基功能缺陷相关的遗传性突变。
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Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency.
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Pseudohypoparathyroidism: one gene, several syndromes.假性甲状旁腺功能减退症：一个基因，多种综合征。
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J Clin Res Pediatr Endocrinol. 2016 Dec 1;8(4):432-438. doi: 10.4274/jcrpe.2743. Epub 2016 Jul 20.
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Postnatal establishment of allelic Gαs silencing as a plausible explanation for delayed onset of parathyroid hormone resistance owing to heterozygous Gαs disruption.产后等位基因Gαs沉默的建立，这是对由于杂合性Gαs破坏导致甲状旁腺激素抵抗延迟发作的一种合理的解释。
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