Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

Stüve-Wiedemann syndrome (SWS) is a severe autosomal recessive condition characterized by bowing of the long bones, with cortical thickening, flared metaphyses with coarsened trabecular pattern, camptodactyly, respiratory distress, feeding difficulties, and hyperthermic episodes responsible for earl...

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Main Authors: Dagoneau, Nathalie, Scheffer, Deborah, Huber, Céline, Al-Gazali, Lihadh I., Di Rocco, Maja, Godard, Anne, Martinovic, Jelena, Raas-Rothschild, Annick, Sigaudy, Sabine, Unger, Sheila, Nicole, Sophie, Fontaine, Bertrand, Taupin, Jean-Luc, Moreau, Jean-François, Superti-Furga, Andrea, Le Merrer, Martine, Bonaventure, Jacky, Munnich, Arnold, Legeai-Mallet, Laurence, Cormier-Daire, Valérie
Formato: Artigo
Idioma:Inglês
Publicado: The American Society of Human Genetics 2004
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181927/
https://ncbi.nlm.nih.gov/pubmed/14740318
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