Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43.
作者信息
Kelly T E, Blanton S, Saif R, Sanjad S A, Sakati N A
出版信息
J Med Genet. 2000 Jan;37(1):63-4. doi: 10.1136/jmg.37.1.63.
Abstract
摘要
相似文献
1
Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43.
J Med Genet. 2000 Jan;37(1):63-4. doi: 10.1136/jmg.37.1.63.
2
Sanjad-Sakati syndrome in a Tunisian child.一名突尼斯儿童患桑贾德-萨卡蒂综合征。
Arch Pediatr. 2015 Sep;22(9):951-5. doi: 10.1016/j.arcped.2015.06.003. Epub 2015 Jul 29.
3
Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement.桑贾德-萨卡蒂综合征和常染色体隐性肯尼-卡菲综合征是等位基因：存在始祖突变和基因座精细化的证据。
Am J Med Genet. 1999 Jul 2;85(1):48-52. doi: 10.1002/(sici)1096-8628(19990702)85:1<48::aid-ajmg9>3.0.co;2-y.
4
Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome.
J Med Genet. 2000 Feb;37(2):145. doi: 10.1136/jmg.37.2.145.
5
Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome.桑贾德 - 萨卡蒂综合征植入前基因诊断后的妊娠。
Prenat Diagn. 2004 Apr;24(4):302-6. doi: 10.1002/pd.841.
6
Sanjad Sakati syndrome: a case series from Jordan.Sanjad Sakati 综合征：来自约旦的病例系列。
East Mediterr Health J. 2012 May;18(5):527-31. doi: 10.26719/2012.18.5.527.
7
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.TBCE突变导致甲状旁腺功能减退-发育迟缓-畸形综合征和常染色体隐性肯尼-卡菲综合征。
Nat Genet. 2002 Nov;32(3):448-52. doi: 10.1038/ng1012. Epub 2002 Oct 21.
8
Visceral myopathy causing chronic intestinal pseudoobstruction and intestinal failure in a child with Sanjad-Sakati syndrome.桑贾德-萨卡蒂综合征患儿内脏肌病导致慢性肠假性梗阻和肠衰竭。
J Pediatr Surg. 2010 Feb;45(2):430-4. doi: 10.1016/j.jpedsurg.2009.12.004.
9
The syndrome of hypoparathyroidism, severe growth failure, developmental delay and distinctive facies.
Clin Dysmorphol. 1997 Jul;6(3):233-7. doi: 10.1097/00019605-199707000-00006.
10
The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.一名来自摩洛哥的患有桑贾德-萨卡蒂综合征患者的TBCE基因贝都因突变c.155 - 166del 。
Ann Saudi Med. 2015 Mar-Apr;35(2):170-2. doi: 10.5144/0256-4947.2015.170.
引用本文的文献
1
Hypoparathyroidism: diagnosis, management and emerging therapies.甲状旁腺功能减退症：诊断、管理及新出现的治疗方法。
Nat Rev Endocrinol. 2025 Jun;21(6):360-374. doi: 10.1038/s41574-024-01075-8. Epub 2025 Feb 4.
2
Homozygous Gene Mutation c.155-166del in a Libyan Patient with Sanjad-Sakati Syndrome: Same Gene Mutation Responsible in All Arab Ethnic Patients.一名患有桑贾德-萨卡蒂综合征的利比亚患者的纯合基因突变c.155-166del：所有阿拉伯族裔患者的基因突变相同
J Pediatr Genet. 2022 Jun 15;13(3):211-214. doi: 10.1055/s-0042-1744482. eCollection 2024 Sep.
3
Recombinant PTH Infusion in a Child With Sanjad-Sakati Syndrome Refractory to Conventional Therapy.重组甲状旁腺激素输注治疗对常规治疗难治的桑贾德 - 萨卡蒂综合征患儿
JCEM Case Rep. 2024 Apr 23;2(4):luae059. doi: 10.1210/jcemcr/luae059. eCollection 2024 Apr.
4
Dental Management of a Tunisian Child with Sanjad-Sakati Syndrome.一名患有桑贾德 - 萨卡蒂综合征的突尼斯儿童的牙科管理
Case Rep Dent. 2022 Apr 22;2022:9585460. doi: 10.1155/2022/9585460. eCollection 2022.
5
Standards of care for hypoparathyroidism in adults: a Canadian and International Consensus.成人甲状旁腺功能减退症的护理标准：加拿大与国际共识
Eur J Endocrinol. 2019 Mar;180(3):P1-P22. doi: 10.1530/EJE-18-0609.
6
Autoimmune thyroiditis associated with Sanjad-Sakati syndrome: A call for regular thyroid screening.
Sudan J Paediatr. 2016;16(2):41-44.
7
Genetic Variants Associated with Circulating Parathyroid Hormone.与循环甲状旁腺激素相关的基因变异
J Am Soc Nephrol. 2017 May;28(5):1553-1565. doi: 10.1681/ASN.2016010069. Epub 2016 Dec 7.
8
New Ocular Associations in Sanjad-Sakati Syndrome: Case report from Oman.桑贾德-萨卡蒂综合征的新眼部关联：阿曼的病例报告。
Sultan Qaboos Univ Med J. 2014 Aug;14(3):e401-4. Epub 2014 Jul 24.
9
Kenny-Caffey syndrome type 1.1型肯尼-卡菲综合征
Avicenna J Med. 2014 Jul;4(3):74-6. doi: 10.4103/2231-0770.133340.
10
Hypoparathyroidism-retardation-dysmorphism syndrome.甲状旁腺功能减退-发育迟缓-畸形综合征
Indian J Hum Genet. 2013 Jul;19(3):363-5. doi: 10.4103/0971-6866.120814.
Zotero 插件