Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype

Background: Asparagine Synthetase Deficiency (ASNSD; OMIM #615574) is a newly described rare autosomal recessive neurometabolic disorder, characterised by congenital microcephaly, severe psychomotor delay, encephalopathy and progressive cerebral atrophy. To date, seven families and seven missense mu...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Sun, Jun, McGillivray, Angela J, Pinner, Jason, Yan, Zhihui, Liu, Fengxia, Bratkovic, Drago, Thompson, Elizabeth, Wei, Xiuxiu, Jiang, Huifeng, Asan, Chopra, Maya
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5509547/
https://ncbi.nlm.nih.gov/pubmed/27469131
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_3
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