Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome
about
Dorsoventral patterning of the mouse coat by Tbx15Modeling anterior development in mice: diet as modulator of risk for neural tube defectsAnalysis of Pax6 contiguous gene deletions in the mouse, Mus musculus, identifies regions distinct from Pax6 responsible for extreme small-eye and belly-spotting phenotypesTranslocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.Morphology and topography of the parietal emissary foramina in South Indians: an anatomical studyCommon mechanisms in development and disease: BMP signaling in craniofacial development.Genetic analysis of the role of Alx4 in the coordination of lower body and external genitalia formation.Evolution of the Alx homeobox gene family: parallel retention and independent loss of the vertebrate Alx3 gene.The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostosesDelayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation.Transcriptome analysis revealed impaired cAMP responsiveness in PHF21A-deficient human cells.Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4.A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function.
P2860
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P2860
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome
description
2000 nî lūn-bûn
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2000 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Haploinsufficiency of ALX4 as ...... tiguous gene-deletion syndrome
@ast
Haploinsufficiency of ALX4 as ...... tiguous gene-deletion syndrome
@en
Haploinsufficiency of ALX4 as ...... tiguous gene-deletion syndrome
@en-gb
Haploinsufficiency of ALX4 as ...... tiguous gene-deletion syndrome
@nl
type
label
Haploinsufficiency of ALX4 as ...... tiguous gene-deletion syndrome
@ast
Haploinsufficiency of ALX4 as ...... tiguous gene-deletion syndrome
@en
Haploinsufficiency of ALX4 as ...... tiguous gene-deletion syndrome
@en-gb
Haploinsufficiency of ALX4 as ...... tiguous gene-deletion syndrome
@nl
prefLabel
Haploinsufficiency of ALX4 as ...... tiguous gene-deletion syndrome
@ast
Haploinsufficiency of ALX4 as ...... tiguous gene-deletion syndrome
@en
Haploinsufficiency of ALX4 as ...... tiguous gene-deletion syndrome
@en-gb
Haploinsufficiency of ALX4 as ...... tiguous gene-deletion syndrome
@nl
P2093
P2860
P1476
Haploinsufficiency of ALX4 as ...... tiguous gene-deletion syndrome
@en
P2093
P2860
P304
P356
10.1016/S0002-9297(07)62963-2
10.1086/321218
P407
P50
P577
2000-10-03T00:00:00Z