专题:Congenital limb and hand anomalies

This cluster of papers focuses on genetic and developmental studies of congenital limb anomalies, including polydactyly, syndactyly, and other malformations. It explores the genetic heterogeneity, mutations in CBP and EP300 genes, disruptions in Shh regulatory elements, upper extremity development, embryology, various classification systems, and epidemiological aspects related to limb anomalies.
最新文献
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

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SÍNDROME DOS OVÁRIOS POLICÍSTICOS

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Osteoplastic Reconstruction of the Thumb: a case report

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A Delayed Diagnosis of Bilateral Pediatric Trigger Thumbs: A Case Report and Literature Review

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Hyperhomocysteinemia with spontaneous bilateral ectopia lentis

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Rubinstein Taybi syndrome with secondary glaucoma: An unusual case report and review of literature

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Chromosomal abnormalities study for anembryonic pregnancy by BACs-on-Beads technique

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Megadactyly with syndactyly of the right toes, a rare case report

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Parietalisation of cord

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Syndactyly in a Newborn

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近5年高被引文献
Implant Fibrosis and the Underappreciated Role of Myofibroblasts in the Foreign Body Reaction

review Full Text OpenAlex 145 FWCI12.64683075

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator

article Full Text OpenAlex 115 FWCI10.89029446

Increased mutation and gene conversion within human segmental duplications

article Full Text OpenAlex 99 FWCI35.56797316

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

review Full Text OpenAlex 80 FWCI12.55601745

Learning Meta Pattern for Face Anti-Spoofing

article Full Text OpenAlex 78 FWCI15.20666833

Parsonage Turner syndrome after COVID‐19 vaccination

letter Full Text OpenAlex 71 FWCI12.94839299

Flexor tendon repair: recent changes and current methods

review Full Text OpenAlex 65 FWCI11.44186195

Deletion of CTCF sites in the SHH locus alters enhancer–promoter interactions and leads to acheiropodia

article Full Text OpenAlex 64 FWCI5.26675107

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

article Full Text OpenAlex 61 FWCI10.20176417

A genome-wide association study identifies 5 loci associated with frozen shoulder and implicates diabetes as a causal risk factor

article Full Text OpenAlex 59 FWCI12.43494174