Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome

Stüve-Wiedemann syndrome (SWS, OMIM 601559) is a rare autosomal recessive bent-bone dysplasia, caused by loss-of-function mutations in the leukemia inhibitory factor receptor (LIFR) gene, which usually leads to early death. Only few patients with long-term survival have been described in the literat...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Mol Syndromol
Asıl Yazarlar: Hatagami Marques, Júlia, Lopes Yamamoto, Guilherme, de Cássia Testai, Larissa, da Costa Pereira, Alexandre, Kim, Chong Ae, Passos-Bueno, Maria R., Romeo Bertola, Débora
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: S. Karger AG 2015
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4521069/
https://ncbi.nlm.nih.gov/pubmed/26279654
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000407418
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