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Article

Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings.

European journal of medical genetics - 1 Feb 2021

Lugli Licia, Ciancia Silvia, Bertucci Emma, Lucaccioni Laura, Calabrese Olga, Madeo Simona, Berardi Alberto, Iughetti Lorenzo

Abstract excerpt

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 hair hypoplasia syndrome has a broad phenotype and it is caused by homozygous or compound heterozygous...

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Identifiers

PMID: 33444820
DOI: 10.1016/j.ejmg.2021.104136

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