ArticleClinical case reports2018
19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype.
Article in Clinical case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- UBA2: the gatekeeper of the sumoylation pathway and its multifaceted roles in human diseases and therapeutic prospects.Clinical and experimental medicine · 2026Review
- Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study.Birth defects research · 2025Article
- Local field potential signal transmission is correlated with the fractional anisotropy measured by diffusion tractography.Brain communications · 2025Article
- A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani family.Human genome variation · 2023Article
- Essential role of Wtip in mouse development and maintenance of the glomerular filtration barrier.American journal of physiology. Renal physiology · 2022Article
- A somatic UBA2 variant preceded ETV6-RUNX1 in the concordant BCP-ALL of monozygotic twins.Blood advances · 2022Article
- Review
- WTIP upregulates FOXO3a and induces apoptosis through PUMA in acute myeloid leukemia.Cell death & disease · 2021Article
- UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Genome sequencing in families with congenital limb malformations.Human genetics · 2021Article
- Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2).European journal of human genetics : EJHG · 2019Article
- 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype.Clinical case reports · 2018Article
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Authors and funding
6 authors.
Funding
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Abstract
We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia-clefting (EEC) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we suggest testing patients with EEC for 19q13.11 microdeletion and include
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.