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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The American Society of Human Genetics 2004
Pynciau:
Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1181927/
https://ncbi.nlm.nih.gov/pubmed/14740318
Tagiau: Ychwanegu Tag
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