Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
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A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) VariantA recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex developmentNR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex developmentIdentical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular TissuesA genomic atlas of human adrenal and gonad development.Somatic mutations and progressive monosomy modify SAMD9-related phenotypes in humans.New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.Genetics of congenital adrenal hyperplasia.Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.A Patient with Proopiomelanocortin Deficiency: An Increasingly Important Diagnosis to Make.Mitochondrial disease and endocrine dysfunction.Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development.Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.Human sex development: targeted technologies to improve diagnosis.Genomewide association studies of suicide attempts in US soldiers.Clinical and genetic characterisation of a series of patients with triple A syndrome.A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure.A zebrafish model of X-linked adrenoleukodystrophy recapitulates key disease features and demonstrates a developmental requirement for abcd1 in oligodendrocyte patterning and myelination.Latest Insights on the Etiology and Management of Primary Adrenal Insufficiency in Children.A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene.Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in Gene
P2860
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P2860
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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name
Rare Causes of Primary Adrenal ...... n of a Large Nationwide Cohort
@ast
Rare Causes of Primary Adrenal ...... n of a Large Nationwide Cohort
@en
type
label
Rare Causes of Primary Adrenal ...... n of a Large Nationwide Cohort
@ast
Rare Causes of Primary Adrenal ...... n of a Large Nationwide Cohort
@en
prefLabel
Rare Causes of Primary Adrenal ...... n of a Large Nationwide Cohort
@ast
Rare Causes of Primary Adrenal ...... n of a Large Nationwide Cohort
@en
P2093
P2860
P50
P356
P1476
Rare Causes of Primary Adrenal ...... n of a Large Nationwide Cohort
@en
P2093
Abdullah Bereket
Ayla Guven
Aysehan Akinci
Aysun Bideci
Banu Kucukemre Aydin
Bayram Ozhan
Emregul Isik
Esra Doger
Federica Buonocore
Firdevs Bas
P2860
P304
P356
10.1210/JC.2015-3250
P407
P577
2015-11-02T00:00:00Z