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Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation Syndrome.
Clin Genet
January 2025
Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck & Kiel University, Lübeck, Germany.
Split-hand/foot malformation syndrome (SHFM) is a congenital limb malformation that is both clinically and genetically heterogeneous. Variants in WNT10B are known to cause an autosomal recessive form of SHFM. Here, we report a patient born to unrelated parents who was found to be a compound heterozygote for missense variants in WNT10B: c.
View Article and Find Full Text PDFThe Dermatologic Oral Examination: Navigating the Oral Dermatoses Map.
J Am Acad Dermatol
January 2025
Mayo Clinic Arizona, Department of Dermatology, Scottsdale, AZ, USA.
Traditionally, dermatological education emphasizes hair, skin and nails in its curriculum. There is a practice gap with regard to knowledge of normal oral mucosa variants, performance of the oral examination, and competence in diagnosing and treating oral mucosal disorders. The oral mucosa falls within the purview of dermatology.
View Article and Find Full Text PDFA Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis.
Fetal Pediatr Pathol
December 2024
Human Genetics Lab, Altamedica Main Centre, Rome, Italy.
Split Hand/Foot Malformation (SHFM) is a rare congenital disorder often linked to genetic duplications that disrupt normal limb development. Here, we present a novel case of SHFM associated with a 10q24.32 microduplication, identified through prenatal diagnosis.
View Article and Find Full Text PDFSplit Hand-Foot Malformations-Unveiling Unique Molecular Diagnosis From a Brazilian Cohort.
Clin Genet
December 2024
Clinical Genetics, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil.
Split hand-foot malformation (SHFM) is a congenital limb malformation affecting primarily the central rays of the hands and/or feet, with variable expressivity, incomplete penetrance and syndromic forms. It is genetically heterogeneous, including point mutations and structural variants in different loci. Five individuals with SHFM were clinically evaluated in a Tertiary Center in Brazil: four of them presented additional, nonskeletal findings, including one individual with split foot, hand syndactyly, and ectodermal findings.
View Article and Find Full Text PDFA novel approach to detecting microduplication in split hand/foot malformation type 3 at the single-cell level: SHFM as a case study.
Orphanet J Rare Dis
October 2024
The First Affiliated Hospital, Tianjian Laboratory of Advanced Biomedical Sciences, Zhengzhou University and Institute of Reproductive Health, Henan Academy of Innovations in Medical Science, Zhengzhou, China.
Background: Split hand/foot malformation (SHFM) is a congenital limb deficiency characterized by missing or shortened central digits. Several gene loci have been associated with SHFM. Identifying microduplications at the single-cell level is challenging in clinical practice, and traditional detection methods may lead to misdiagnoses in embryos and pregnant women.
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