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Last Updated: 10/31/2025
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Found 65 publications
Biallelic variants in AGRN in a family with recurrent pregnancy losses and fetal akinesia deformation sequence.
Journal: Clinical dysmorphology
Published: January 14, 2025
Identification of four TTN variants in three families with fetal akinesia deformation sequence.
Journal: BMC medical genomics
Published: December 18, 2023
Foetal Akinesia Deformation Sequence: A Rare Lethal Entity.
Journal: JPMA. The Journal of the Pakistan Medical Association
Published: November 28, 2023
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
Journal: Clinical genetics
Published: November 16, 2023
Biallellic variants in CACNA1S cause fetal akinesia sequence, progressive hydrops and stillbirth.
Journal: Prenatal diagnosis
Published: July 02, 2023
Alteration of actin cytoskeletal organisation in fetal akinesia deformation sequence.
Journal: Scientific reports
Published: June 15, 2023
Fetal akinesia deformation sequence syndrome associated with recessive TTN variants.
Journal: American journal of medical genetics. Part A
Published: June 14, 2022
Construction and evaluation of a prognosis prediction model for thyroid carcinoma based on lipid metabolism-related genes.
Journal: Neuro endocrinology letters
Published: June 10, 2022
Care Pathway for Foetal Joint Contractures, Foetal Akinesia Deformation Sequence, and Arthrogryposis Multiplex Congenita.
Journal: Fetal diagnosis and therapy
Published: July 18, 2021
Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review.
Journal: Molecular genetics & genomic medicine
Published: May 17, 2021
Last Updated: 10/31/2025