Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes Cartilage Hair Hypoplasia Syndrome in two siblings.
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DOI: 10.1016/j.ejmg.2021.104136
Abstract: Cartilage hair hypoplasia syndrome (OMIM # 250250) is a rare autosomal recessive metaphyseal dysplasia, characterized by disproportionate short stature, hair hypoplasia and variable extra-skeletal manifestations, including immunodeficiency, anemia, intestinal diseases and predisposition to cancers. Cartilage… read more here.
Keywords: mutation mitochondrial; cartilage hair; hypoplasia syndrome; rna processing ... See more keywords
Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia – high rate of HPV positivity
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DOI: 10.1186/s13023-018-0945-9
Abstract: BackgroundPatients 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… read more here.
Keywords: age; cartilage hair; hpv infections; chh ... See more keywords