Varaico: Literature-Extracted Genetic Variants

Gene:LIFR
Variant:p.T252insFs
Back to variants list

LIFR

NM_001127671.2:p.T252insFs

Associated Papers

A case report on the oral manifestations of Stüve-Wiedemann syndrome.

Kandari A et al.

Journal of Oral Science, 2026

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

McDermott H et al.

European Journal of Medical Genetics, 2023

Neuroparalytic keratopathy in Stüve-Wiedemann syndrome treated with tarsoconjunctival flap.

Hernández-García S et al.

Indian Journal of Ophthalmology, 2023

Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.

Warnier H et al.

Orphanet Journal of Rare Diseases, 2022

Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.

Siccha SM et al.

American Journal of Medical Genetics. Part A, 2021

Stüve-Wiedemann syndrome with multiple eruptive vellus hair cysts and clefted tongue.

Lobato-Berezo A et al.

Pediatric Dermatology, 2020

Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.

Romeo Bertola D et al.

Molecular Syndromology, 2016

Stüve-Wiedemann syndrome in a neonate.

Sarafidis K et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

Dagoneau N et al.

American Journal of Human Genetics, 2004

Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome.

Corona-Rivera JR et al.

European Journal of Medical Genetics, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."