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Article

Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome - A case series from the West Midlands, UK.

European journal of medical genetics - 1 Aug 2023

McDermott Helen, Simmonds Jennifer, Thyagarajan Manigandan, Islam Lily, Naik Swati, Titheradge Hannah

Abstract excerpt

Stüve-Wiedemann Syndrome (STWS) is an autosomal recessive condition caused by variants in the LIFR gene, presenting with respiratory failure, hyperthermia and skeletal dysplasia in the neonatal period. Historically identified as a lethal condition, more children are now managed holistically from early in life with multidisciplinary team involvement with improved outcomes. This stems from early diagnosis,...

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Identifiers

PMID: 37295610
DOI: 10.1016/j.ejmg.2023.104788

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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