Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.
about
Type I interferon-mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overviewMusculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus.Dermatologic Manifestations of Monogenic Autoinflammatory Diseases.Cytosolic nucleic acid sensors and innate immune regulation.Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.RIG-I-Like Receptor Signaling in Singleton-Merten Syndrome.Singleton Merten Syndrome: A Rare Cause of Early Onset Aortic Stenosis.Bone involvement in monogenic autoinflammatory syndromes.A novel IFIH1 mutation in the pincer domain underlies the clinical features of both Aicardi-Goutières and Singleton-Merten syndromes in a single patient.Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report.Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function
P2860
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P2860
Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Unusual cutaneous features ass ...... nd Singleton-Merten syndromes.
@ast
Unusual cutaneous features ass ...... nd Singleton-Merten syndromes.
@en
type
label
Unusual cutaneous features ass ...... nd Singleton-Merten syndromes.
@ast
Unusual cutaneous features ass ...... nd Singleton-Merten syndromes.
@en
prefLabel
Unusual cutaneous features ass ...... nd Singleton-Merten syndromes.
@ast
Unusual cutaneous features ass ...... nd Singleton-Merten syndromes.
@en
P2093
P2860
P50
P356
P1476
Unusual cutaneous features ass ...... and Singleton-Merten syndromes
@en
P2093
A Oojageer
A-C Bursztejn
B H Anderson
P2860
P304
P356
10.1111/BJD.14073
P407
P577
2015-10-29T00:00:00Z