Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome
about
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumoursRare Genetic Forms of Obesity: Clinical Approach and Current Treatments in 2016.Multi-ethnic Meta-analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea Related Quantitative Trait Locus in Men.RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death.A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
P2860
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Whole exome sequencing identif ...... diagnosed with ROHHAD syndrome
@ast
Whole exome sequencing identif ...... diagnosed with ROHHAD syndrome
@en
type
label
Whole exome sequencing identif ...... diagnosed with ROHHAD syndrome
@ast
Whole exome sequencing identif ...... diagnosed with ROHHAD syndrome
@en
prefLabel
Whole exome sequencing identif ...... diagnosed with ROHHAD syndrome
@ast
Whole exome sequencing identif ...... diagnosed with ROHHAD syndrome
@en
P2093
P2860
P50
P356
P1476
Whole exome sequencing identif ...... diagnosed with ROHHAD syndrome
@en
P2093
Joel N Hirschhorn
Jonathan Picker
Kristyn M Esteves
Laura Crowley
Meghan C Towne
Pankaj B Agrawal
Philip M James
Sarah H Elsea
P2860
P304
P356
10.1210/JC.2014-4215
P407
P577
2015-03-17T00:00:00Z