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A case of pseudohypoparathyroidism type Ia with a novel frameshift mutation in the gene: early diagnosis of osteoma cutis by skin biopsy.

作者信息

Kodo Kazuki, Maeda Hiroshi, Morimoto Hidechika, Wada Makoto, Imura Tetsuya, Nakajima Hisakazu

机构信息

Department of Pediatrics, North Medical Center, Kyoto Prefectural University of Medicine, Kyoto, Japan.

Department of Dermatology, North Medical Center, Kyoto Prefectural University of Medicine, Kyoto, Japan.

出版信息

Clin Pediatr Endocrinol. 2019;28(1):15-18. doi: 10.1297/cpe.28.15. Epub 2019 Jan 31.

DOI:10.1297/cpe.28.15
PMID:30745729
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6356092/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c38e/6356092/42e54c5761c8/cpe-28-015-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c38e/6356092/350d77ddbc57/cpe-28-015-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c38e/6356092/42e54c5761c8/cpe-28-015-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c38e/6356092/350d77ddbc57/cpe-28-015-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c38e/6356092/42e54c5761c8/cpe-28-015-g002.jpg

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本文引用的文献

1
GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.1a型假性甲状旁腺功能减退症及相关疾病中的GNAS突变
Hum Mutat. 2015 Jan;36(1):11-9. doi: 10.1002/humu.22696. Epub 2014 Nov 28.
2
Early manifestation of obesity and calcinosis cutis in infantile pseudohypoparathyroidism.婴儿假性甲状旁腺功能减退症中肥胖和皮肤钙化的早期表现。
J Paediatr Child Health. 2006 Dec;42(12):821-3. doi: 10.1111/j.1440-1754.2006.00985.x.
3
Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.
GNAS 通过促进 STAT3 激活促进炎症相关的肝细胞癌进展。
Cell Mol Biol Lett. 2020 Feb 24;25:8. doi: 10.1186/s11658-020-00204-1. eCollection 2020.
Ia型假性甲状旁腺功能减退症中皮肤钙化的早期表现与GNAS基因的一种新突变相关。
Eur J Endocrinol. 2005 Apr;152(4):515-9. doi: 10.1530/eje.1.01879.
4
Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy.奥尔布赖特遗传性骨营养不良中编码腺苷酸环化酶刺激性G蛋白的基因发生突变。
N Engl J Med. 1990 May 17;322(20):1412-9. doi: 10.1056/NEJM199005173222002.