Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome-Reference-Cited by-同舟云学术

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

Published:2009-07 Issue:4 Volume:52 Page:242-246
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Corona-Rivera J. Román,Cormier-Daire Valérie,Dagoneau Nathalie,Coello-Ramírez Pedro,López-Marure Eloy,Romo-Huerta Carmen O.,Silva-Baez Héctor,Aguirre-Salas Liuba M.,Estrada-Solorio María Inés

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference17 articles.

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2. Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain;Chabrol;Am. J. Med. Genet.,1997

3. Characterization of a long-term survivor with Stuve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome;Chen;Am. J. Med. Genet.,2001

4. Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz–Jampel syndrome type 2;Cormier-Daire;Am. J. Med. Genet.,1998

5. New insights in congenital bowing of the femora;Cormier-Daire;Clin. Genet.,2004

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1. A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature;Frontiers in Pediatrics;2024-04-02

2. Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome – A case series from the West Midlands, UK;European Journal of Medical Genetics;2023-08

3. Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review;Orphanet Journal of Rare Diseases;2022-04-23

4. Stüve–Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway;Clinical Dysmorphology;2019-04

5. Genetic determinants of swallowing impairment, recovery and responsiveness to treatment;Current Physical Medicine and Rehabilitation Reports;2016-08-08