|本期目录/Table of Contents|

[1]郑佳琪,姜丽红,牛乐乐,等.重组人生长激素治疗IHH 基因杂合突变1 例[J].天津医科大学学报,2022,28(03):328-331.
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重组人生长激素治疗IHH 基因杂合突变1 例(PDF)
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《天津医科大学学报》[ISSN:1006-8147/CN:12-1259/R]

卷:
28卷
期数:
2022年03期
页码:
328-331
栏目:
病例报告
出版日期:
2022-05-20

文章信息/Info

Title:
-
文章编号:
1006-8147(2022)03-0328-04
作者:
郑佳琪姜丽红牛乐乐马晨刘戈力
(天津医科大学总医院儿科,天津300052)
Author(s):
-
关键词:
印度刺猬基因身材矮小短指(趾)畸形A1 型IHHrhGH
Keywords:
-
分类号:
R725
DOI:
-
文献标志码:
B
摘要:
-
Abstract:
-

参考文献/References:

[1] MININA E,WENZEL H M,KRESCHEL C,et al. BMP and Ihh/ PTHrP signaling interact to coordinate chondrocyte proliferation and differentiation[J]. Development,2001,128(22):4523-4534.
[2] GAO B,GUO J,SHE C,et al. Mutations in IHH,encoding Indian hedgehog,cause brachydactyly type A-1[J]. Nat Genet,2001,28(4): 386-388.
[3] BARON J,SAVENDAHL L,DE LUCAF,et al. Short and tall stature: a new paradigm emerges [J]. Nat Rev Endocrinol,2015,11(12): 735-746.
[4] SASAI N,TORYAMA M,KONDO T.Hedgehog signal and genetic disorders[J]. Front Genet,2019,10:1103.
[5] XIA T,ZHANG H,ZHANG L,et al. Comparative and evolutionary analysis of the reptilian hedgehog gene family(Shh,Dhh,and Ihh) [J]. Peer J,2019,7:e7613.
[6] HELLEMANS J,COUCKE P J,GIEDION A,et al. Homozygous mutations in IHH cause acrocapitofemoral dysplasia,an autosomal recessive disorder with cone-shaped epiphyses in hands and hips[J]. Am J Hum Genet,2003,72(4):1040-1046.
[7] SENTCHORDI-MONTANE L,BENITO-SANZ S,AZA-CARMONA M,et al. Clinical and molecular description of 16 families with heterozygous IHH variants[J]. J Clin Endocrinol Metab,2020,105(8): dgaa218.
[8] VASQUES G A,FUNARI MFA,FERREIRA F M,et al. IHH gene mutations causing short stature with nonspecific skeletal abnormalities and response to growth hormone therapy [J]. J Clin Endocrinol Metab,2018,103(2):604-614.
[9] WILLIAMS K D,NAHHAS R W,COTTOM C R,et al. Evaluation of qualitative methods for phenotyping brachymesophalangia-V from ra diographs of children[J]. Am J Hum Biol,2012,24(1):68-73.
[10] BYRNES A M,RACACHO L,GRIMSEY A,et al. Brachydactyly A- 1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog [J]. Eur J Hum Genet,2009,17(9): 1112-1120.
[11] 胡旭昀,吴迪,李孟婷,等.身材矮小合并短指(趾)畸形3 例家系 的基因突变与表型分析并文献复习[J]. 首都医科大学学报, 2018,39(6):937-944.

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[1]刘祖娴,姜丽红,刘戈力,等.Potocki-Lupski综合征及重组人生长激素治疗随诊1例报告[J].天津医科大学学报,2023,29(03):326.

备注/Memo

备注/Memo:
作者简介:郑佳琪(1996-),女,硕士在读,研究方向:小儿内分泌及遗传代谢;
通信作者:姜丽红,E-mail:jianglihong73@126.com。
更新日期/Last Update: 2022-06-01