HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

• المؤلفون الرئيسيون: Hollstein, R, Parry, D.A, Nalbach, L, Logan, C.V, Strom, T.M, Hartill, V.L, Carr, I.M, Korenke, G.C, Uppal, S, Ahmed, M, Wieland, T, Markham, A.F, Bennett, C.P, Gillessen-Kaesbach, G, Sheridan, E.G, Kaiser, F.J, Bonthron, D.T
• مؤلفون آخرون: OTOLARYNGOLOGY
• التنسيق: مقال
• منشور في: BMJ Publishing Group 2020
• الموضوعات: HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase; ubiquitin protein ligase E3; unclassified drug; HACE1 protein, human; ubiquitin protein ligase; adolescent; adult; apraxia; Article; autosomal recessive disorder; autosomal recessive inheritance; chest infection; child; clinical article; cognitive defect; consanguinity; divergent strabismus; dystonic disorder; enzyme deficiency; epilepsy; exome; female; gait disorder; gene sequence; genetic variability; human; immobility; intellectual impairment; lordosis; loss of function mutation; macrocephaly; male; molecular pathology; motor dysfunction; muscle hypotonia; myopia; nonsense mutation; obesity; perception deafness; preschool child; priority journal; retina dystrophy; spasticity; virus encephalitis; cell culture; deficiency; dna mutational analysis; genetics; infant; mental disease; pedigree; recessive gene; single nucleotide polymorphism; syndrome; Cells, Cultured; Child; Child, Preschool; DNA Mutational Analysis; Female; Genes, Recessive; Humans; Infant; Male; Neurodevelopmental Disorders; Pedigree; Polymorphism, Single Nucleotide; Syndrome; Ubiquitin-Protein Ligases
• الوصول للمادة أونلاين: https://scholarbank.nus.edu.sg/handle/10635/180093
• المؤسسة: National University of Singapore

10.1136/jmedgenet-2015-103344