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Nance-Horan 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 "Nance-Horan syndrome" returned 0 free, full-text review articles. First 0 results:
Nance-Horan syndrome in females due to a balanced X;1 translocation that disrupts the NHS gene: Familial case report and review of the literature.
Last Updated: Jun 26, 2018

The Nance-Horan syndrome is an X-linked disorder characterized by congenital cataract, facial features, microcornea, microphthalmia, and dental anomalies; most of the cases are due to NHS gene mutations on Xp22.13. Heterozygous carrier females generally present less severe features, ...

Nance-Horan syndrome-The oral perspective on a rare disease.
Last Updated: Oct 19, 2017

The present study describes seven patients with Nance-Horan syndrome, all referred to a specialized oral care unit in the Central Denmark Region. A literature search on "Nance Horan Syndrome" resulted in 53 publications among which 29 reported on dental findings. Findings reported ...

Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.
Last Updated: Sep 05, 2019

Nance-Horan syndrome (NHS) is a rare X-linked condition comprising congenital cataract with microcornea, distinctive dental, and evocative facial anomalies. Intellectual handicap was mentioned in seven published NHS patients. We performed a clinical study focused on psychomotor development, ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Nance-Horan syndrome" returned 0 free, full-text editorial articles. First 0 results:
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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 "Nance-Horan syndrome" returned 16 free, full-text research articles. First few results:
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.
Last Updated: Mar 09, 2020

Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This disorder is caused by mutations in the NHS gene. However, NHS may be difficult to detect in individuals with subtle facial dysmorphism ...

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.
Last Updated: Dec 11, 2018

Nance-Horan syndrome is a rare X-linked recessive inherited disease with clinical features including severe bilateral congenital cataracts, characteristic facial and dental abnormalities. Data from Chinese Nance-Horan syndrome patients are limited. We assessed the clinical manifestations ...

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?
Last Updated: Mar 01, 2019

Nance-Horan syndrome is a rare X-linked developmental disorder characterized by bilateral congenital cataract, dental anomalies, facial dysmorphism, and intellectual disability. Here, we identify a patient with Nance-Horan syndrome caused by a new nonsense NHS variant. In addition, ...

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