Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
about
Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndromeCytogenomic Aberrations in Congenital Cardiovascular MalformationsLower urinary tract development and diseaseGenetic variants associated with idiopathic pulmonary fibrosis susceptibility and mortality: a genome-wide association study.The CRF system, stress, depression and anxiety-insights from human genetic studies.The cochlear CRF signaling systems and their mechanisms of action in modulating cochlear sensitivity and protection against trauma.KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism.The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.Surveying the Down syndrome mouse model resource identifies critical regions responsible for chronic otitis media.A case of 17q21.31 microduplication and 7q31.33 microdeletion, associated with developmental delay, microcephaly, and mild dysmorphic features."Idiopathic" mental retardation and new chromosomal abnormalities.Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition.Complex phenotype associated with 17q21.31 microdeletion.KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia.The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.An additional clinical sign of 17q21.31 microdeletion syndrome: preaxial polydactyly of hands with broad thumbs.Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotypeDe novo triplication of theMAPTgene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies
P2860
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P2860
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
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
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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
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2009年學術文章
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name
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
@en
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
@nl
type
label
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
@en
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
@nl
prefLabel
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
@en
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
@nl
P2093
P50
P356
P1476
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome
@en
P2093
A Darmanian
A Slavotinek
Damien Bruno
J B Moeschler
P304
P356
10.1136/JMG.2008.065391
P407
P577
2009-05-15T00:00:00Z