Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

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Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.A Saudi Infant with Vici Syndrome: Case Report and Literature Review.

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Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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name

Prenatal and postnatal present ...... gyria caused by EGP5 mutation.

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Prenatal and postnatal present ...... gyria caused by EGP5 mutation.

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Prenatal and postnatal present ...... gyria caused by EGP5 mutation.

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Prenatal and postnatal present ...... gyria caused by EGP5 mutation.

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Prenatal and postnatal present ...... gyria caused by EGP5 mutation.

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Prenatal and postnatal present ...... gyria caused by EGP5 mutation.

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P1476

Prenatal and postnatal present ...... ogyria caused by EGP5 mutation

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Anne Elodie Millischer

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Camille Maillard

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Cecile Masson

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Cyril Gitiaux

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Jean Philippe Bault

http://www.w3.org/2001/XMLSchema#string

Kevin Piquand

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Mara Cavallin

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Marion Philbert

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P2860

Vici syndrome: a review

Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections

Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Counseling in fetal medicine: agenesis of the corpus callosum.

Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies.

Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.

Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review.

Inborn errors of metabolism: a cause of abnormal brain development.

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706-711

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scholarly article

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10.1002/AJMG.A.38061

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English

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173

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2017-02-07T00:00:00Z

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28168853

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P921

polymicrogyria

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

about

P2860

P2860

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

description

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P1433

P1476

P2093

P2860

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P356

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P478

P50

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P921