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Article

Variants in FREM1 and trisomy 18 identified in a neonatal progeria patient.

Molecular biology reports - 1 Sept 2023

Siddiqi Saima, Ain Noor Ul, Kauser Mehran, Mukhtar Zahra, Ansar Muhammad, Umair Muhammad

Abstract excerpt

BACKGROUND: Neonatal progeroid disorders are rare disorders with clinical features including low body mass index, proptosis, aged and dysmorphic facial features at the time of birth, prominent veins, sparse scalp hairs, and severe growth retardation. Very few cases have been identified with an unknown genetic cause. Here, we report clinical and genetic findings of a proband with hallmark features of neonatal...

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Identifiers

PMID: 37470964
DOI: 10.1007/s11033-023-08595-y

Genes

FREM1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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