Nonsyndromic Split-Hand/Foot Malformation: Recent Classification
| العنوان: | Nonsyndromic Split-Hand/Foot Malformation: Recent Classification |
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| المؤلفون: | Muhammad Umair, Amir Hayat |
| المصدر: | Mol Syndromol |
| بيانات النشر: | S. Karger AG, 2019. |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, Ectrodactyly, Genetic inheritance, Foot malformation, Genetic heterogeneity, business.industry, Review Article, medicine.disease, Recurrence risk, Split-Hand/Foot Malformation, Skeletal disorder, Genetics, medicine, business, Genetics (clinical) |
| الوصف: | Split-hand/foot malformation (SHFM) is a genetic limb anomaly disturbing the central rays of the autopod. SHFM is a genetically heterogeneous disorder with variable expressivity inherited as syndromic and nonsyndromic forms. We provide an update of the clinical and molecular aspects of nonsyndromic SHFM. This rare condition is highly complex due to the clinical variability and irregular genetic inheritance observed in the affected individuals. Nonsyndromic SHFM types have been reviewed in terms of major molecular genetic alterations reported to date. This updated overview will assist researchers, scientists, and clinicians in making an appropriate molecular diagnosis, providing an accurate recurrence risk assessment, and developing a management plan. |
| تدمد: | 1661-8777 1661-8769 |
| DOI: | 10.1159/000502784 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::940ef54e43fa6c98fdccdecda2d16880 https://doi.org/10.1159/000502784 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....940ef54e43fa6c98fdccdecda2d16880 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 16618777 16618769 |
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| DOI: | 10.1159/000502784 |