Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
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Thyroid transcription factors in development, differentiation and diseaseADCY5 mutations are another cause of benign hereditary choreaRecent advances in genetics of choreaDetection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.Pulmonary alveolar proteinosis: time to shift?Genetic disorders of surfactant protein dysfunction: when to consider and how to investigate.Association of Established Thyroid-stimulating Hormone and Free Thyroxine Genetic Variants with Hashimoto's Thyroiditis.Surfactant proteins in pediatric interstitial lung disease.NKX2.1-Related Disorders: a novel mutation with mild clinical presentationNovel NKX2-1 Frameshift Mutations in Patients with Atypical Phenotypes of the Brain-Lung-Thyroid Syndrome.A frequent oligogenic involvement in congenital hypothyroidism.A familial case of PDE10A-associated childhood-onset chorea with bilateral striatal lesions.
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P2860
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 08 April 2014
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Comprehensive genotyping and c ...... xpand the phenotypic spectrum.
@en
Comprehensive genotyping and c ...... xpand the phenotypic spectrum.
@nl
type
label
Comprehensive genotyping and c ...... xpand the phenotypic spectrum.
@en
Comprehensive genotyping and c ...... xpand the phenotypic spectrum.
@nl
prefLabel
Comprehensive genotyping and c ...... xpand the phenotypic spectrum.
@en
Comprehensive genotyping and c ...... xpand the phenotypic spectrum.
@nl
P2093
P2860
P1476
Comprehensive genotyping and c ...... xpand the phenotypic spectrum.
@en
P2093
Anne Steininger
Anne Thorwarth
Annette Grüters
Barbara Plecko
Carsten Bönnemann
Christof Dame
Christoph Hübner
Dietz Rating
Francis deZegher
Grit Ebert
P2860
P304
P356
10.1136/JMEDGENET-2013-102248
P407
P577
2014-04-08T00:00:00Z