Homozygous n.64C > T mutation in mitochondrial RNA-processing endoribonuclease gene causes Cartilage Hair Hypoplasia Syndrome in two siblings.

We describe the prenatal and postnatal growth pattern of the two affected patients, showing severe pre- and post-natal growth deficiency.
PMID: 33444820 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - January 11, 2021 Category: Genetics & Stem Cells Authors: Licia L, Silvia C, Emma B, Laura L, Olga C, Simona M, Alberto B, Lorenzo I Tags: Eur J Med Genet Source Type: research