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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

Related topics

Related topics

17 relations
Autosomal recessive inheritanceBrachydactylyClinodactyly of the 5th fingerEczema
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Broader (5)

CardiomyopathiesImmunologic Deficiency SyndromesMental Retardation, X-LinkedOsteochondrodysplasias
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
Lowry-Wood syndrome (LWS) is a skeletal dysplasia characterized by multiple epiphyseal dysplasia associated with microcephaly… Expand
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2018
2018
Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome
Background: Roifman syndrome is a rare inherited disorder characterized by spondyloepiphyseal dysplasia, growth retardation… Expand
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2018
2018
Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n… Expand
2017
2017
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
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
A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome
Roifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and… Expand
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Review
2016
Review
2016
Primary immunodeficiencies associated with eosinophilia
BackgroundEosinophilia is not an uncommon clinical finding. However, diagnosis of its cause can be a dilemma once common culprits… Expand
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Highly Cited
2015
Highly Cited
2015
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia… Expand
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2011
2011
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome
In 2006, we reported the cognitive and behavioral phenotype of the seventh case of Roifman syndrome (OMIM 300258). Aged 11 years… Expand
2006
2006
The cognitive and behavioural phenotype of Roifman syndrome.
BACKGROUND Roifman syndrome (OMIM 300258) is a multi-system disorder with a physical phenotype that includes Beta-cell… Expand
2001
2001
Noncompaction of the myocardium associated with Roifman syndrome
Noncompaction of the ventricular myocardium, sometimes referred to as “spongy myocardium”, appears as excessive and prominent… Expand
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