Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.
about
Recent advances in the pathogenesis of syndromic autismsSox11 is required to maintain proper levels of Hedgehog signaling during vertebrate ocular morphogenesisKeeping an eye on SOXC proteins.Cis-regulatory control of corticospinal system development and evolution.Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndromeA de novo POU3F3 Deletion in a Boy with Intellectual Disability and Dysmorphic Features.Chromosomal abnormalities in patients with autism spectrum disorders from Taiwan.SOX11 target genes: implications for neurogenesis and neuropsychiatric illness.A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathy
P2860
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P2860
Deletion 2p25.2: a cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH.
description
2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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2008年学术文章
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2008年学术文章
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2008年学术文章
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name
Deletion 2p25.2: a cryptic chr ...... tardation detected using aCGH.
@en
Deletion 2p25.2: a cryptic chr ...... tardation detected using aCGH.
@nl
type
label
Deletion 2p25.2: a cryptic chr ...... tardation detected using aCGH.
@en
Deletion 2p25.2: a cryptic chr ...... tardation detected using aCGH.
@nl
prefLabel
Deletion 2p25.2: a cryptic chr ...... tardation detected using aCGH.
@en
Deletion 2p25.2: a cryptic chr ...... tardation detected using aCGH.
@nl
P2093
P50
P1476
Deletion 2p25.2: a cryptic chr ...... tardation detected using aCGH.
@en
P2093
Adriana Lo-Castro
Cinzia Galasso
Grazia Giana
Lucia Grillo
Paolo Curatolo
P356
10.1016/J.EJMG.2008.09.004
P577
2008-10-14T00:00:00Z