Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.
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DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human diseaseCBP/p300-interacting transactivator, with Glu/Asp-rich C-terminal domain, 2, and pre-B-cell leukemia transcription factor 1 in human adrenal development and disease.Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.Evidence of adrenal failure in aging Dax1-deficient mice.Hypogonadotropic hypogonadism in subjects with DAX1 mutations.Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease.The optimal range of RET mutations to be tested: European comments to the guidelines of the American Thyroid Association.X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyAn official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.X-linked adrenal hypoplasia congenita: a novel DAX1 missense mutation and challenges for clinical diagnosis in Africa.Entire DAX1 gene deletion in an Indian boy with adrenal hypoplasia congenita.Role of Orphan Nuclear Receptor DAX-1/NR0B1 in Development, Physiology, and Disease
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Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on September 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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Skewed X inactivation is assoc ...... adrenal hypoplasia congenita.
@en
Skewed X inactivation is assoc ...... adrenal hypoplasia congenita.
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label
Skewed X inactivation is assoc ...... adrenal hypoplasia congenita.
@en
Skewed X inactivation is assoc ...... adrenal hypoplasia congenita.
@nl
prefLabel
Skewed X inactivation is assoc ...... adrenal hypoplasia congenita.
@en
Skewed X inactivation is assoc ...... adrenal hypoplasia congenita.
@nl
P2093
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P356
P1476
Skewed X inactivation is assoc ...... h adrenal hypoplasia congenita
@en
P2093
B Padmakumar
C Hellerud
G T N Besley
H Kingston
M G Shaikh
P2860
P356
10.1136/JMG.2007.055129
P407
P577
2008-09-01T00:00:00Z