Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb–polysyndactyly syndrome in a Chinese family and review of the literature
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/content/pdf/10.1007/s00431-013-2071-y.pdf
Reference27 articles.
1. Al-Qattan MM (2013) Preaxial polydactyly of the upper limb viewed as a spectrum of severity of embryonic events. Ann Plast Surg. doi: 10.1097/SAP.0b013e318248b67f
2. Al-Qattan MM, Al Abdulkareem I, Al Haidan Y, Al Balwi M (2012) A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency. Am J Med Genet A 158A(10):2610–2615. doi: 10.1002/ajmg.a.35584
3. Albuisson J, Isidor B, Giraud M, Pichon O, Marsaud T, David A, Le Caignec C, Bezieau S (2011) Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly. Clin Genet 79(4):371–377. doi: 10.1111/j.1399-0004.2010.01465.x
4. Balci S, Demirtas M, Civelek B, Piskin M, Sensoz O, Akarsu AN (1999) Phenotypic variability of triphalangeal thumb-polysyndactyly syndrome linked to chromosome 7q36. Am J Med Genet 87(5):399–406. doi: 10.1002/(SICI)1096-8628(19991222)87:5<399::AID-AJMG6>3.0.CO;2-A
5. Cho TJ, Baek GH, Lee HR, Moon HJ, Yoo WJ, Choi IH (2013) Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report. J Pediatr Orthop B 22(3):219–221. doi: 10.1097/BPB.0b013e32835106b2
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2. Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives;Genes;2022-04-27
3. Complex radial polydactyly in a Chinese family: inclusion of triphalangism, triplication, and syndactyly;Annals of Translational Medicine;2021-08
4. Sub-Exome Target Sequencing in a Family With Syndactyly Type IV Due to a Novel Partial Duplication of the LMBR1 Gene: First Case Report in Fujian Province of China;Frontiers in Genetics;2020-02-28
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