Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.
about
Aicardi syndrome: Neonatal diagnosis by means of transfontanellar ultrasound.The first patient with a pure 1p36 microtriplication associated with severe clinical phenotypesCopy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.
P2860
Molecular characterization of a monosomy 1p36 presenting as an Aicardi syndrome phenocopy.
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Molecular characterization of ...... an Aicardi syndrome phenocopy.
@en
Molecular characterization of ...... an Aicardi syndrome phenocopy.
@nl
type
label
Molecular characterization of ...... an Aicardi syndrome phenocopy.
@en
Molecular characterization of ...... an Aicardi syndrome phenocopy.
@nl
prefLabel
Molecular characterization of ...... an Aicardi syndrome phenocopy.
@en
Molecular characterization of ...... an Aicardi syndrome phenocopy.
@nl
P2093
P356
P1476
Molecular characterization of ...... an Aicardi syndrome phenocopy.
@en
P2093
Anne-Claire Bursztejn
Christophe Nemos
Marie-José Grégoire
Myriam Bronner
Philippe Jonveaux
Sylviane Peudenier
P304
P356
10.1002/AJMG.A.33051
P407
P577
2009-11-01T00:00:00Z