Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype-Reference-Cited by-同舟云学术

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Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype

Published:2013-01-19 Issue:8 Volume:172 Page:1131-1135
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Sethi Sidharth Kumar,Goyal Deepak,Khalil Sumaira,Yadav Dinesh Kumar

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00431-013-1938-2.pdf

Reference10 articles.

1. Baraitser M, Winter RM, Brett EM (1983) Greig cephalopolysyndactyly: report of 13 affected individuals in three families. Clin Genet 24:257–265

2. Biesecker LG (2008) The Greig cephalopolysyndactyly syndrome. Orphanet J Rare Dis 3:10. doi: 10.1186/1750-1172-3-10

3. Cheng F, Ke X, Lv M, Zhang F, Li C, Zhang X, Zhang Y, Zhao X, Wang X, Liu B, Han J, Li Y, Zeng C, Li S (2011) A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family. Clinica Chimica Acta 412:1012–1017

4. Debeer P, Devriendt K, Smet LD, deRavel T, Gonzalez-Meneses A, Grzeschik KH, Fryns JP (2007) The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly. J Child Orthop 1:143–150

5. Duncan PA, Klein RM, Wilmot PL, Shapiro LR (1979) Greig cephalopolysyndactyly syndrome. Am J Dis Child 133:818–821

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis;Orphanet Journal of Rare Diseases;2022-05-12

2. Novel GLI3 pathogenic variants in complex pre‐ and postaxial polysyndactyly and Greig cephalopolysyndactyly syndrome;American Journal of Medical Genetics Part A;2020-10-15

3. Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes;Journal of Medical Genetics;2020-06-26

4. GLI3mutations in syndromic and non-syndromic polydactyly in two Indian families;Congenital Anomalies;2016-03

5. A novel GLI3 mutation affecting the zinc finger domain leads to preaxial-postaxial polydactyly-syndactyly complex;BMC Medical Genetics;2014-09-30

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