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Alstrom syndrome

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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Alstrom syndrome" returned 4 free, full-text review articles. First few results:
Ciliopathy: Alström Syndrome.
Last Updated: Jul 23, 2019

Alström syndrome is an autosomal recessive disease with multisystem involvement, including cone-rod dystrophy, hearing loss, type 2 diabetes, insulin resistance with hyperinsulinemia, dilated cardiomyopathy, and progressive hepatic and renal failure. Patients present in childhood ...

ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.
Last Updated: May 05, 2020

Alström syndrome (AS) is characterised by metabolic deficits, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy and multi-organ fibrosis. Elucidating the function of the mutated gene, ALMS1, is critical for the development of specific treatments and may uncover ...

The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
Last Updated: Dec 10, 2019

Alström syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. ...

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4 Free Review Articles 10 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Alstrom syndrome" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Alstrom syndrome" returned 63 free, full-text research articles. First few results:
A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.
Last Updated: Mar 23, 2020

Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with Alström syndrome associated with two novel ...

Whole exome sequencing identified two homozygous ALMS1 mutations in an Iranian family with Alström syndrome.
Last Updated: Feb 18, 2020

Alström syndrome (AS) is a rare monogenic multi-system ciliopathy disorder with cardinal features, including cone-rod dystrophy, sensory neural hearing loss, metabolic dysfunctions and multiple organ failure caused by bi-allelic mutations in a centrosomal basal body protein-coding ...

Late diagnosis of Alstrom syndrome in a Yemenite-Jewish child.
Last Updated: Apr 03, 2020

We describe the ophthalmologic, clinical, and genetic findings in a patient of Yemenite-Jewish origin diagnosed with Alstrom syndrome due to a novel splice-site mutation 10 years after a clinical misdiagnosis of Leber congenital amaurosis.

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63 Free Research Articles 133 Research Articles