X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G&gt;C mutation in the ATRX gene.

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作者： Fatemeh,Shakarami ^[1] ; Mehdi,Jahani ^[1] ; Zahra,Nouri ^[1] ; Mohammad Amin,Tabatabaiefar ^[2]

作者单位： Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. ^[1] Genetics Department, Erythron Pathobiology and Genetics Lab, Isfahan, Iran. ^[2] Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran. ^[3] GenTArget Corp (GTAC), Deputy of Research and Technology, Isfahan University of Medical Sciences, Isfahan, Iran. ^[4]

关键词 ATRX Exome sequencing Iranian population X-linked mental retardation XLMR primary microcephaly

主题词聋(Deafness);女(雌)性(Female);生长障碍(Growth Disorders);人类(Humans);性腺功能减退症(Hypogonadism);精神发育迟滞, X连锁(Mental Retardation, X-Linked);小头畸形(Microcephaly);突变(Mutation)

DOI 10.1002/mgg3.2034

PMID 35962714

发布时间 2022-11-14

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Molecular genetics & genomic medicine

2022年10卷10期

e2034页

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X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G&gt;C mutation in the ATRX gene.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G&amp;gt;C mutation in the ATRX gene.

Molecular genetics & genomic medicine

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Molecular genetics & genomic medicine

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X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene.