Literature DB >> 24973351

Split hand/foot malformation syndrome (SHFM): rare congenital orthopaedic disorder.

Ankur Patel1, Deepak Sharma2, Jaivinder Yadav2, Eva Garg2.   

Abstract

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Year:  2014        PMID： 24973351      PMCID： PMC4078436          DOI： 10.1136/bcr-2014-204731

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


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  8 in total

1.  Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

Authors:  P Ianakiev; M W Kilpatrick; I Toudjarska; D Basel; P Beighton; P Tsipouras
Journal:  Am J Hum Genet       Date:  2000-06-05       Impact factor: 11.025

Review 2.  The p63 gene in EEC and other syndromes.

Authors:  H G Brunner; B C J Hamel; H Van Bokhoven
Journal:  J Med Genet       Date:  2002-06       Impact factor: 6.318

3.  p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities.

Authors:  A Yang; M Kaghad; Y Wang; E Gillett; M D Fleming; V Dötsch; N C Andrews; D Caput; F McKeon
Journal:  Mol Cell       Date:  1998-09       Impact factor: 17.970

4.  p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.

Authors:  H van Bokhoven; B C Hamel; M Bamshad; E Sangiorgi; F Gurrieri; P H Duijf; K R Vanmolkot; E van Beusekom; S E van Beersum; J Celli; G F Merkx; R Tenconi; J P Fryns; A Verloes; R A Newbury-Ecob; A Raas-Rotschild; F Majewski; F A Beemer; A Janecke; D Chitayat; G Crisponi; H Kayserili; J R Yates; G Neri; H G Brunner
Journal:  Am J Hum Genet       Date:  2001-07-17       Impact factor: 11.025

5.  Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

Authors:  J Celli; P Duijf; B C Hamel; M Bamshad; B Kramer; A P Smits; R Newbury-Ecob; R C Hennekam; G Van Buggenhout; A van Haeringen; C G Woods; A J van Essen; R de Waal; G Vriend; D A Haber; A Yang; F McKeon; H G Brunner; H van Bokhoven
Journal:  Cell       Date:  1999-10-15       Impact factor: 41.582

Review 6.  On the inheritance of the split hand/split foot malformation.

Authors:  J Zlotogora
Journal:  Am J Med Genet       Date:  1994-10-15

Review 7.  Pathogenesis of split-hand/split-foot malformation.

Authors:  Pascal H G Duijf; Hans van Bokhoven; Han G Brunner
Journal:  Hum Mol Genet       Date:  2003-04-01       Impact factor: 6.150

8.  Surgical classification of central deficiency according to the thumb web.

Authors:  P R Manske; M N Halikis
Journal:  J Hand Surg Am       Date:  1995-07       Impact factor: 2.230
  8 in total
  5 in total

1.  A case of atypical cleft hand - reported with ontogenetic review.

Authors:  Sujit Kumar Kundu; Hironmoy Roy; Abhijit Datta
Journal:  J Clin Diagn Res       Date:  2014-12-05

2.  Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.

Authors:  Mingzhu Miao; Shoulian Lu; Xiao Sun; Meng Zhao; Jue Wang; Xiaotan Su; Bai Jin; Lizhou Sun
Journal:  BMC Med Genomics       Date:  2022-07-13       Impact factor: 3.622

3.  Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination.

Authors:  Deepak Sharma; Chetan Kumar; Sanjay Bhalerao; Aakash Pandita; Sweta Shastri; Pradeep Sharma
Journal:  Front Pediatr       Date:  2015-06-16       Impact factor: 3.418

4.  Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.

Authors:  Ying Peng; Shuting Yang; Hui Xi; Jiancheng Hu; Zhengjun Jia; Jialun Pang; Jing Liu; Wenxian Yu; Chengyuan Tang; Hua Wang
Journal:  Mol Genet Genomic Med       Date:  2021-01-20       Impact factor: 2.183

5.  P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development.

Authors:  Paola Monti; Yari Ciribilli; Giorgia Foggetti; Paola Menichini; Alessandra Bisio; Serena Cappato; Alberto Inga; Maria Teresa Divizia; Margherita Lerone; Renata Bocciardi; Gilberto Fronza
Journal:  Biosci Rep       Date:  2019-12-20       Impact factor: 3.840
  5 in total

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