Roifman syndrome

Known as: RFMN, SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY, Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2000-2018
01220002018

Papers overview

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2018
2018
BACKGROUND Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, growth retardation… (More)
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2018
2018
RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and… (More)
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2017
2017
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More… (More)
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2017
2017
Roifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and… (More)
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Review
2016
Review
2016
Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic… (More)
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2011
2011
Roifman syndrome is a rare syndrome of bone dysplasia, growth retardation, retinal dystrophy and humeral immunodeficiency. Six… (More)
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2011
2011
In 2006, we reported the cognitive and behavioral phenotype of the seventh case of Roifman syndrome (OMIM 300258). Aged 11 years… (More)
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2006
2006
BACKGROUND Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell… (More)
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2001
2001
Noncompaction of the ventricular myocardium, sometimes referred to as "spongy myocardium", appears as excessive and prominent… (More)
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2000
2000
The combination of spondyloepiphyseal dysplasia, humoral immune deficiency, growth retardation, intellectual deficit and… (More)
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