Acrocallosal Syndrome Latest Advances

Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.

Journal: Case reports in perinatal medicine

Published: October 19, 2024

Retinitis Pigmentosa Sine Pigmento in a Patient With a Heterozygous Mutation on the KIF7 Gene: A Case Report.

Journal: Cureus

Published: June 19, 2024

Intracranial arachnoid cysts.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: May 23, 2023

Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.

Journal: Cerebral cortex (New York, N.Y. : 1991)

Published: April 29, 2022

Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7.

Journal: Journal of cell science

Published: January 27, 2021

Acrocallosal Syndrome First Presenting with Acute Lymphoblastic Leukemia: A Rare Case Report.

Journal: Neurology India

Published: November 21, 2019

Olfactory bulb and olfactory tract abnormalities in acrocallosal syndrome and Greig cephalopolysyndactyly syndrome.

Journal: Pediatric radiology

Published: February 11, 2019

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.

Journal: Human molecular genetics

Published: September 04, 2018

Anaesthetising an infant with acrocallosal syndrome: An unusual case.

Journal: Indian journal of anaesthesia

Published: June 19, 2018

Intracranial cystic lesions and polydactyly associated with acrocallosal syndrome: Sonographic findings in two cases.

Journal: Journal of clinical ultrasound : JCU

Published: May 22, 2018

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

Journal: European journal of human genetics : EJHG

Published: January 26, 2017

Characterizing the morbid genome of ciliopathies.

Journal: Genome biology

Published: August 29, 2016