Clinical, genetic, and molecular aspects of split‐hand/foot malformation: An update

No abstract is available for this paper.

• Publication year

  2013

• Venue

  American Journal of Medical Genetics. Part A

• Publication date

  2013-11-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/ajmg.a.36239PMID 24115638
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Split hand/foot malformation with long‐bone deficiency and BHLHA9 duplication: report of 13 new families

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• Three new patients with FATCO: Fibular agenesis with ectrodactyly

  2012cited by this paper
• A de novo 1.1Mb microdeletion of chromosome 19p13.11 provides indirect evidence for EPS15L1 to be a strong candidate for split hand split foot malformation.

  2011cited by this paper
• Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1

  2011cited by this paper
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• Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

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• Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation

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• Homozygous nonsense mutation in WNT10B and sporadic split‐hand/foot malformation (SHFM) with autosomal recessive inheritance

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• Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

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• Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements

  2009cited by this paper
• A novel microdeletion at chromosome 2q31.1‐31.2 in a three‐generation family presenting duplication of great toes with clinodactyly

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• Split hand‐foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion—evidence for further heterogeneity?

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• Characterization of two ectrodactyly-associated translocation breakpoints separated by 2.5 Mb on chromosome 2q14.1–q14.2

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• 4q32–q35 and 6q16–q22 are valuable candidate regions for split hand/foot malformation

  2009cited by this paper
• A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3

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• Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes

  2007cited by this paper
• A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation

  2007cited by this paper
• 2q24-q31 deletion: report of a case and review of the literature.

  2007influential reference
• Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

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• Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation

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• p63-Associated Disorders

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• Genotype–phenotype correlations in mapped split hand foot malformation (SHFM) patients

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• The expanding panorama of split hand foot malformation

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• Split‐hand/split‐foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region

  2006influential reference
• Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non‐syndromic split‐hand/foot malformation

  2006influential reference
• Clinical and epidemiological findings in patients with central ray deficiency: Split hand foot malformation (SHFM) in Manitoba, Canada

  2006cited by this paper
• Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation

  2005cited by this paper
• Breakpoints around the HOXD cluster result in various limb malformations

  2005cited by this paper
• Discrepancies in upper and lower limb patterning in split hand foot malformation

  2005cited by this paper
• Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

  2005influential reference
• Fine mapping of the X‐linked split‐hand/split‐foot malformation (SHFM2) locus to a 5.1‐Mb region on Xq26.3 and analysis of candidate genes

  2004influential reference
• Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia

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• Heterozygous Mutation in the SAM Domain of p63 Underlies Rapp-Hodgkin Ectodermal Dysplasia

  2003cited by this paper
• The interval of linkage disequilibrium (LD) detected with microsatellite and SNP markers in chromosomes of Finnish populations with different histories.

  2003cited by this paper
• Pathogenesis of split-hand/split-foot malformation.

  2003cited by this paper
• A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

  2003cited by this paper
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  2002cited by this paper
• The Dlx5 and Dlx6 homeobox genes are essential for craniofacial, axial, and appendicular skeletal development.

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  2000cited by this paper
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  1999influential reference
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• Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster.

  1999cited by this paper
• A novel human gene encoding an F-box/WD40 containing protein maps in the SHFM3 critical region on 10q24.

  1999cited by this paper
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  1999cited by this paper
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  1999cited by this paper
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  1996cited by this paper
• Refined mapping of a gene for split hand-split foot malformation (SHFM3) on chromosome 10q25.

  1996cited by this paper
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• Curation and reporting of pathogenic genome-wide copy-number variants in a prenatal cell-free DNA screen.

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• A novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study

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• A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family

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  2020cites this paper
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