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Cartilage-Hair Hypoplasia

Metaphyseal chondrodysplasia, McKusick type
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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 "Cartilage-Hair Hypoplasia" returned 1 free, full-text review articles. First 1 results:
Marked variability in the radiographic features of cartilage-hair hypoplasia: case report and review of the literature.
Last Updated: Dec 10, 2019

Cartilage-hair hypoplasia (CHH) is a rare recessive metaphyseal chondrodysplasia characterized by severe short stature, ectodermal dysplasia, anemia in childhood, immune deficiency, susceptibility to malignancy, and normal intelligence. Short, thick long bones, metaphyseal flaring ...

The molecular basis of the cartilage-hair hypoplasia-anauxetic dysplasia spectrum.
Last Updated: Dec 10, 2019

Cartilage-hair hypoplasia and anauxetic dysplasia are two autosomal recessive skeletal dysplasias characterized by different degrees from metaphyseal to spondylo-meta-epiphyseal dysplasia and variable additional features including predisposition to cancer, anemia, immunodeficiency, ...

Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype.
Last Updated: Nov 19, 2009

To report on the expanding clinical and immunological spectrum associated with ribonuclease mitochondrial RNA-processing mutations and to review the cellular and molecular mechanisms involved in the pathophysiology of cartilage-hair hypoplasia (CHH) and related disorders in humans.

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1 Free Review Articles 6 Review Articles

Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Cartilage-Hair Hypoplasia" 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 "Cartilage-Hair Hypoplasia" returned 31 free, full-text research articles. First few results:
Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females.
Last Updated: Feb 06, 2020

Cartilage-hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia significantly affecting adult height and quality of life. Immunodeficiency and increased risk for malignancies contribute to significant morbidity. Little is known about gynecologic health in CHH. We performed ...

Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity.
Last Updated: Dec 10, 2019

Patients with cartilage-hair hypoplasia (CHH), a rare metaphyseal chondrodysplasia, manifest severe growth failure, variable immunodeficiency and increased risk of malignancies. The impact of CHH on gynecologic and reproductive health is unknown. Vulnerability to genital infections ...

A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia.
Last Updated: Dec 10, 2019

Mutations in , encoding a non-coding RNA molecule, underlie cartilage-hair hypoplasia (CHH), a syndromic immunodeficiency with multiple pathogenetic mechanisms and variable phenotype. Allergy and asthma have been reported in the CHH population and some patients suffer from autoimmune ...

Full PubMed Research articles matches at NCBI:
31 Free Research Articles 105 Research Articles