HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

10.1136/jmedgenet-2015-103344

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Bibliographic Details
Main Authors:	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
Other Authors:	OTOLARYNGOLOGY
Format:	Article
Published:	BMJ Publishing Group 2020
Subjects:	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
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/180093
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Institution:	National University of Singapore

Description
Summary:	10.1136/jmedgenet-2015-103344