期刊文献+

以皮肤骨瘤为首发症状的Albright遗传性骨营养不良症一例 被引量:1

A case of Albright hereditary osteodystrophy with osteoma cutis as the initial symptom
原文传递
导出
摘要 患儿女,4月龄,因左腹部、大腿后侧暗红色斑块2个月就诊。患儿出生后2个月,父母发现其左腹部、大腿后侧有暗红色斑块,未发现患儿有不适症状。患儿系足月顺产,纯母乳喂养,无宫内发育迟缓,无窒息史,无其他疾病史。母均体健,母亲身高149 cm,父亲身高168 cm,均无类似疾病史,非近亲结婚家族中无类似疾病患者。
作者 寒宇阳 赵文英 李垣君 张杏莲 Han Yuyang;Zhao Wenying;Li Yuanjun;Zhang Xinglian(Department of Dermatology,Children′s Hospital of Shanxi,Taiyuan 030013,China;Department of Pathology,Children′s Hospital of Shanxi,Taiyuan 030013,China)
出处 《中华皮肤科杂志》 CAS CSCD 北大核心 2020年第9期736-737,共2页 Chinese Journal of Dermatology
  • 相关文献

参考文献1

二级参考文献20

  • 1Frey UH, Nuckel H, Sellmann L, et al. The GNAS1 3393 C polymorphism is associated with disease progression and survival in chronic lymphocytic leukemia. Clin Cancer Res,2006,12:5686-5692.
  • 2Schmitz KJ, Lang H, Frey UH,et al. GNAS1 T393 C polymorphism is associated with clinical course in patients with intrahepatie cholangiocarcinoma. Neoplasia,2007,9 : 159-165.
  • 3Bastepe M, Frohlich LF, Hendy GN, et al. Autosomal dominant pseudohypoparathyroidism type Ⅰ b is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS. J Clin Invest ,2003,112 : 1255-1263.
  • 4Wu WI, Schwindinger WF, Aparicio LF, et al. Selective resistance to parathyroid hormone caused by a novel uncoupling mutation in the carboxyl terminus of Gsα. A cause of pseudohypoparathyroidlsm type 1b.J Biol Chem ,2001,276 : 165-171.
  • 5Michienzi S, Cherman N, Holmbeck K, et al. GNAS transcripts in skeletal progenitors: Evidence for random asymmetric allelic expression of Gs{alphat}. Hum Mol Genet,2007, [Epub abeda of print].
  • 6Hayward BE, Barlier A, Korbonits M, et al. Imprinting of the Gsα gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest ,2001, 107 :R31-R36.
  • 7Mantovani G, Ballare E, Giammona E, et al. The Gsα gene : predomi- nant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab,2002,87:4736-4740.
  • 8Germain-Lee EL,Ding CL,Deng Z,et al. Paternal imprinting of Gsα in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type la. Biochem Biophys Res Commun, 2002,296 : 67 -72.
  • 9Lio J,Erliehman B,Weinstein IS. The stimulatory G protein α-subunit Gsα is imprinted in human thyroid glands: implications for thyroid function in pseudohypoparathyroidism types 1A and 1B. J Clin Endocrinol Metab ,2003,88:4336-4341.
  • 10Idowu BD, Al-Adnani M, O'Donnell P, et al. A sensitive mutationspecific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone. Histopathology,2007,50:691-704.

共引文献6

同被引文献2

引证文献1

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部