Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). - Wikidata - awgldk - TriplyDB

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).

http://www.wikidata.org/entity/Q55058231

about

Intellectual Disability: When the Hypertrichosis Is a Clue Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.Chromatin modifiers and histone modifications in bone formation, regeneration, and therapeutic intervention for bone-related disease.A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome.Nervous system development and disease: A focus on trithorax related proteins and chromatin remodelers.Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.Modes of Interaction of KMT2 Histone H3 Lysine 4 Methyltransferase/COMPASS Complexes with Chromatin.Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations

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P2860

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).

http://www.wikidata.org/entity/Q55058231

description

2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

@wuu

2014年学术文章

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2014年学术文章

@zh-hans

2014年学术文章

@zh-my

2014年学术文章

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2014年學術文章

@yue

2014年學術文章

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2014年學術文章

@zh-hant

name

Advanced bone age in a girl wi ...... xonic deletion in KMT2A (MLL).

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Advanced bone age in a girl wi ...... nd an exonic deletion in KMT2A

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type

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Advanced bone age in a girl wi ...... xonic deletion in KMT2A (MLL).

@en

Advanced bone age in a girl wi ...... nd an exonic deletion in KMT2A

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prefLabel

Advanced bone age in a girl wi ...... xonic deletion in KMT2A (MLL).

@en

Advanced bone age in a girl wi ...... nd an exonic deletion in KMT2A

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American Journal of Medical Genetics

P1476

Advanced bone age in a girl wi ...... xonic deletion in KMT2A (MLL).

@en

P2093

Anne M Slavotinek

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Bryce A Mendelsohn

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Melissa Pronold

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Nizar Smaoui

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Roger Long

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P2860

Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

De novo mutations in MLL cause Wiedemann-Steiner syndrome.

Mechanisms of mixed-lineage leukemia.

Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case.

ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.

P304

2079-2083

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scholarly article

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10.1002/AJMG.A.36590

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8

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164A

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2014-05-12T00:00:00Z

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24818805

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