Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences-Reference-Cited by-同舟云学术

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Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

Published:2007-12 Issue:1 Volume:8 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Malik Sajid,Girisha KM,Wajid Muhammad,Roy Akhilesh K,Phadke Shubha R,Haque Sayedul,Ahmad Wasim,Koch Manuela C,Grzeschik Karl-Heinz

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1471-2350-8-78.pdf

Reference17 articles.

1. Sarfarazi M, Akarsu AN, Sayli BS: Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. Hum Mol Genet. 1995, 4 (8): 1453-1458. 10.1093/hmg/4.8.1453.

2. Debeer P, Schoenmakers EF, Twal WO, Argraves WS, De Smet L, Fryns JP, Van De Ven WJ: The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. J Med Genet. 2002, 39 (2): 98-104. 10.1136/jmg.39.2.98.

3. Malik S, Abbasi AA, Ansar M, Ahmad W, Koch MC, Grzeschik KH: Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12. Clin Genet. 2006, 69 (6): 518-524. 10.1111/j.1399-0004.2006.00620.x.

4. Goodman FR, Mundlos S, Muragaki Y, Donnai D, Giovannucci-Uzielli ML, Lapi E, Majewski F, McGaughran J, McKeown C, Reardon W, Upton J, Winter RM, Olsen BR, Scambler PJ: Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. Proc Natl Acad Sci U S A. 1997, 94 (14): 7458-7463. 10.1073/pnas.94.14.7458.

5. Muragaki Y, Mundlos S, Upton J, Olsen BR: Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science. 1996, 272 (5261): 548-551. 10.1126/science.272.5261.548.

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1. HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families;Genetics in Medicine;2023-11

2. Clinical and genetic analysis in Chinese families with synpolydactyly, and cellular localization of HOXD13 with different length of polyalanine tract;Frontiers in Genetics;2023-03-22

3. Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives;Genes;2022-04-27

4. Nonframeshifting indel variations in polyalanine repeat of HOXD13 gene underlies hereditary limb malformation for two Chinese families;Developmental Dynamics;2021-03-30

5. Syndactyly;Congenital Anomalies of the Upper Extremity;2021

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