Schwartz-Jampel syndrome type 2 and St�ve-Wiedemann syndrome: A case for ?Lumping?
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference13 articles.
1. Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.
2. Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.
3. Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain
4. Clinical homogeneity of the St�ve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2
5. Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval
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1. Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review;Orphanet Journal of Rare Diseases;2022-04-23
2. Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature;American Journal of Medical Genetics Part A;2020-12-11
3. Stuve-Wiedemann Sendromu: Nadir Bir Klinik Antite;Gazi Medical Journal;2020-10-01
4. Developments in the Orthopaedic Management of Children With Stüve-Wiedemann Syndrome: Use of the Fassier-Duval Telescopic Rod to Maintain Correction of Deformity;Journal of Pediatric Orthopaedics;2017-12
5. Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations;Human Molecular Genetics;2017-03-08
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