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Last Updated: 10/31/2025
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Found 836 publications
Expert consensus on the clinical diagnosis and treatment of Split-hand/foot malformations (2025 Edition)
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 14, 2025
Clinical Features of Gollop-Wolfgang Complex in North Africa: A Case Study.
Journal: Cureus
Published: July 13, 2025
Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.
Journal: American journal of medical genetics. Part A
Published: May 07, 2025
Surgical management of ectrodactyly-associated foot deformity in a child: a case report.
Journal: Journal of medical case reports
Published: May 02, 2025
Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the Literature.
Journal: Genetic testing and molecular biomarkers
Published: April 18, 2025
Arhgap29 Deficiency Directly Leads to Systemic and Craniofacial Skeletal Abnormalities.
Journal: International journal of molecular sciences
Published: March 26, 2025
Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum.
Journal: Molecular syndromology
Published: March 05, 2025
Novel compound heterozygous DOCK6 variants expand the mutational spectrum in prenatal diagnosis of Adams-Oliver syndrome 2.
Journal: BMC medical genomics
Published: February 24, 2025
Last Updated: 10/31/2025