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