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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書目詳細資料
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
其他作者:	OTOLARYNGOLOGY
格式:	Article
出版:	BMJ Publishing Group 2020
主題:	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
在線閱讀:	https://scholarbank.nus.edu.sg/handle/10635/180093
標簽:	添加標簽沒有標簽, 成為第一個標記此記錄!

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