A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation-Reference-Cited by-同舟云学术

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A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation

Published:2007-06-14 Issue:2 Volume:122 Page:191-199
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Babbs Christian,Heller Raoul,Everman David B.,Crocker Mark,Twigg Stephen R. F.,Schwartz Charles E.,Giele Henk,Wilkie Andrew O. M.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-007-0390-7.pdf

Reference44 articles.

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2. Bertone P, Stolc V, Royce TE, Rozowsky JS, Urban AE, Zhu X, Rinn JL, Tongprasit W, Samanta M, Weissman S, Gerstein M, Snyder M (2004) Global identification of human transcribed sequences with genome tiling arrays. Science 306:2242–2246

3. Capdevila J, Belmonte JCI (2001) Patterning mechanisms controlling vertebrate limb development. Annu Rev Cell Dev Biol 17:87–132

4. Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H (1999) Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 99:143–153

5. Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA (1996) Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 383:407–413

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1. Sequence Variants in the <i>WNT10B</i> Underlying Non-Syndromic Split-Hand/Foot Malformation;Molecular Syndromology;2023

2. PTPN4 germline variants result in aberrant neurodevelopment and growth;Human Genetics and Genomics Advances;2021-07

3. Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family;Molecular Genetics & Genomic Medicine;2021-01-20

4. Split hand/foot malformation genetics supports the chromosome 7 copy segregation mechanism for human limb development;Philosophical Transactions of the Royal Society B: Biological Sciences;2016-12-19

5. Functional Assessment in Tibial Hemimelia (Can We Also Save the Foot in Reconstruction?);Journal of Pediatric Orthopaedics;2016-09

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