一个患有奥尔布赖特遗传性骨营养不良症的家族中可能的常染色体隐性遗传及该疾病遗传学评估 - Suppr

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Probable autosomal recessive inheritance in a family with Albright's hereditary osteodystrophy and an evaluation of the genetics of the disorder.

作者信息

Cederbaum S D, Lippe B M

出版信息

Am J Hum Genet. 1973 Nov;25(6):638-45.

PMID:4359274

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1762585/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/785a/1762585/1c99b8b1ffde/ajhg00451-0062-a.jpg

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Probable autosomal recessive inheritance in a family with Albright's hereditary osteodystrophy and an evaluation of the genetics of the disorder.一个患有奥尔布赖特遗传性骨营养不良症的家族中可能的常染色体隐性遗传及该疾病遗传学评估

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本文引用的文献

Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. With a report of two cases representing the complete syndrome occurring in successive generations.奥尔布赖特遗传性骨营养不良，包括假性甲状旁腺功能减退和假假性甲状旁腺功能减退。报告两例代表连续两代出现的完整综合征的病例。

Ann Intern Med. 1962 Feb;56:315-42. doi: 10.7326/0003-4819-56-2-315.

Sex chromatin and gene action in the mammalian X-chromosome.哺乳动物X染色体中的性染色质与基因作用

Am J Hum Genet. 1962 Jun;14(2):135-48.

Calcification of the basal ganglia of the brain.脑基底神经节钙化。

Am J Roentgenol Radium Ther Nucl Med. 1959 Nov;82:806-22.

RENAL PHOSPHATURIC RESPONSE TO PARATHYROID HORMONE ADMINISTRATION AND DIETARY INTAKE OF PHOSPHORUS IN MAN.

J Clin Endocrinol Metab. 1964 Nov;24:1103-9. doi: 10.1210/jcem-24-11-1103.

PSEUDO-PSEUDOHYPOPARATHYROIDISM (ALBRIGHT'S HEREDITARY OSTEODYSTROPHY): A FAMILY STUDY.假性假甲状旁腺功能减退症（奥尔布赖特遗传性骨营养不良症）：一项家族研究。

Mayo Clin Proc. 1964 Feb;39:81-91.

[On the genetics of Albright's hereditary osteodystrophy].

Med Welt. 1965 Oct 9;41:2308-12.

Autosomal dominant inheritance in Albright's hereditary osteodystrophy.

J Pediatr. 1971 Dec;79(6):996-9. doi: 10.1016/s0022-3476(71)80196-8.

Thyroid dysfunction in pseudohypoparathyroidism.

J Clin Endocrinol Metab. 1971 Nov;33(5):822-8. doi: 10.1210/jcem-33-5-822.

Parathyroid hormone-sensitive adenyl cyclase from the renal cortex of a patient with pseudohypoparathyroidism.

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Pseudohypoparathyroidism: defective excretion of 3',5'-AMP in response to parathyroid hormone.假性甲状旁腺功能减退症：对甲状旁腺激素反应时3',5'-AMP排泄缺陷。

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