Acrocallosal syndrome is an autosomal recessive form of polysyndactyly associated with mental retardation and agenesis of the corpus callosum. There have been suggestions that it is allelic to the Greig cephalopolysyndactyly syndrome. Linkage analysis, using flanking markers, shows this suggestion is unlikely to be correct.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016094 | PMC |
http://dx.doi.org/10.1136/jmg.29.9.635 | DOI Listing |
Cureus
June 2024
Department of Surgery, School of Medicine, University of Puerto Rico, Medical Sciences Campus, San Juan, PRI.
Mutations in the gene have been implicated in autosomal recessive conditions such as Joubert syndrome, acrocallosal syndrome, and fetal hydrolethalus, as well as in retinal degeneration and other ocular manifestations due to their effect on primary cilia. In this study, we report that the full-field electroretinogram (ERG) test showed non-recordable scotopic ERG responses, while photopic ERG responses were diminished bilaterally. This is a case report of a 62-year-old female patient with painless, progressive vision loss in both eyes.
View Article and Find Full Text PDFChilds Nerv Syst
October 2023
Department of Neurosurgery, Johns Hopkins Hospital, The Johns Hopkins University School of Medicine, 600 North Wolfe Street, Phipps 566, Baltimore, MD, 21287, USA.
Cereb Cortex
March 2023
Department of Neurosurgery, Yale University School of Medicine, New Haven, CT 06510, United States.
Arachnoid cysts (ACs) are the most common space-occupying lesions in the human brain and present significant challenges for clinical management. While most cases of ACs are sporadic, nearly 40 familial forms have been reported. Moreover, ACs are seen with increased frequency in multiple Mendelian syndromes, including Chudley-McCullough syndrome, acrocallosal syndrome, and autosomal recessive primary ciliary dyskinesia.
View Article and Find Full Text PDFJ Cell Sci
July 2021
Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, MI 48109, USA.
The kinesin-4 member KIF7 plays critical roles in Hedgehog signaling in vertebrate cells. KIF7 is an atypical kinesin as it binds to microtubules but is immotile. We demonstrate that, like conventional kinesins, KIF7 is regulated by auto-inhibition, as the full-length protein is inactive for microtubule binding in cells.
View Article and Find Full Text PDFNeurol India
June 2020
Divisions of Pediatric Hematology and Oncology, Dr. Behçet Uz Children's Hospital, İzmir, Turkey.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!