Ontology highlight
ABSTRACT:
SUBMITTER: Colombo EA
PROVIDER: S-EPMC9965077 | biostudies-literature | 2023 Feb
REPOSITORIES: biostudies-literature
Colombo Elisa Adele EA Valiante Michele M Uggeri Matteo M Orro Alessandro A Majore Silvia S Grammatico Paola P Gentilini Davide D Finelli Palma P Gervasini Cristina C D'Ursi Pasqualina P Larizza Lidia L
International journal of molecular sciences 20230216 4
Two adult siblings born to first-cousin parents presented a clinical phenotype reminiscent of Rothmund-Thomson syndrome (RTS), implying fragile hair, absent eyelashes/eyebrows, bilateral cataracts, mottled pigmentation, dental decay, hypogonadism, and osteoporosis. As the clinical suspicion was not supported by the sequencing of <i>RECQL4</i>, the RTS2-causative gene, whole exome sequencing was applied and disclosed the homozygous variants c.83G>A (p.Gly28Asp) and c.2624A>C (p.Glu875Ala) in the ...[more]