Article
Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.
American journal of medical genetics. Part A - 1 Sept 2023
Remmelzwaal P Christian, Verhagen Martijn V, Jongbloed Jan D H, van den Akker Peter C, Veenstra-Knol Hermine E, Hitzert Marrit M
Abstract excerpt
The cartilage hair hypoplasia and anauxetic dysplasia (CHH-AD) spectrum encompasses a group of rare skeletal disorders, with anauxetic dysplasia (ANXD) at the most severe end of the spectrum. Biallelic variants in RMRP, POP1, and NEPRO (C3orf17) have previously been associated with the three currently recognized ANXD types. Generally, all types are characterized by severe short stature, brachydactyly, skin...
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