HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

10.1136/jmedgenet-2015-103344

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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

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spelling	sg-nus-scholar.10635-1800932024-04-25T07:08:06Z HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome 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 OTOLARYNGOLOGY 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 10.1136/jmedgenet-2015-103344 Journal of Medical Genetics 52 12 797-803 2020-10-26T06:54:14Z 2020-10-26T06:54:14Z 2015 Article 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 (2015). HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. Journal of Medical Genetics 52 (12) : 797-803. ScholarBank@NUS Repository. https://doi.org/10.1136/jmedgenet-2015-103344 0022-2593 https://scholarbank.nus.edu.sg/handle/10635/180093 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ BMJ Publishing Group Unpaywall 20201031
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	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
spellingShingle	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 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 HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
description	10.1136/jmedgenet-2015-103344
author2	OTOLARYNGOLOGY
author_facet	OTOLARYNGOLOGY 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
format	Article
author	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
author_sort	Hollstein, R
title	HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
title_short	HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
title_full	HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
title_fullStr	HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
title_full_unstemmed	HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
title_sort	hace1 deficiency causes an autosomal recessive neurodevelopmental syndrome
publisher	BMJ Publishing Group
publishDate	2020
url	https://scholarbank.nus.edu.sg/handle/10635/180093
_version_	1800914578842845184

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome

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