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Roifman syndrome

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

Papers overview

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2018
2018
Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with microcephaly… Expand
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2018
2018
Background: Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, growth retardation… Expand
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2018
2018
Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n… Expand
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2017
2017
Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More… Expand
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2017
2017
Roifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and… Expand
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Review
2016
Review
2016
BackgroundEosinophilia is not an uncommon clinical finding. However, diagnosis of its cause can be a dilemma once common culprits… Expand
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2015
2015
Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia… Expand
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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… Expand
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2006
2006
BACKGROUND Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell… Expand
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2001
2001
Noncompaction of the ventricular myocardium, sometimes referred to as "spongy myocardium", appears as excessive and prominent… Expand
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