ArticleAmerican journal of medical genetics. Part A2017
Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency.
Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- lncRNAs: function and mechanism in cartilage development, degeneration, and regeneration.Stem cell research & therapy · 2019Review
- Clinical and molecular diagnosis of a cartilage-hair hypoplasia with IGF-1 deficiency.American journal of medical genetics. Part A · 2017Article
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Authors and funding
7 authors at 2 institutions in 2 countries.
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Abstract
Cartilage-hair hypoplasia syndrome (CHH) is a rare autosomal recessive condition characterized by metaphyseal chondrodysplasia and characteristic hair, together with a myriad of other symptoms, being most common immunodeficiency and gastrointestinal complications. A 15-year-old Mexican male initially diagnosed with Hirschsprung disease and posterior immunodeficiency, presents to our department for genetic and complementary evaluation for suspected CHH. Physical, biochemical, and genetic studies confirmed CHH together with IGF-1 deficiency. For this reason, we propose IGF-1 replacement therapy for its well-known actions on hematopoiesis, immune function and maturation, and metabolism. © 2016 Wiley Periodicals, Inc.
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