FAQ

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

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
(More)

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Roifman syndrome
Cardiomyopathies
Retinal Diseases
Immunologic Deficiency Syndromes
Autosomal recessive inheritance
Lymphadenopathy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… (More)
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2018
2018
The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and… (More)
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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… (More)
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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… (More)
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Review
2016
Review
2016
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
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
Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases.
Roifman syndrome is a rare syndrome of bone dysplasia, growth retardation, retinal dystrophy and humeral immunodeficiency. Six… (More)
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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… (More)
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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… (More)
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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… (More)
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2000
2000
Hypogonadotrophic hypogonadism in Roifman syndrome.
The combination of spondyloepiphyseal dysplasia, humoral immune deficiency, growth retardation, intellectual deficit and… (More)
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