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One in Three: Congenital Bent Bone Disease and Intermittent Hyperthermia in Three Siblings with Stuve-Wiedemann Syndrome

Stuve-Wiedemann syndrome (STWS) is a rare disorder characterised by congenital bowing of the long bones, contractures of the joints, neonatal onset of respiratory distress, sucking and swallowing difficulties, dysautonomia presenting as episodic hyperthermia, and usually an early death. Three siblin...

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Hlavní autoři: Koul, Roshan, Al-Kindy, Adila, Mani, Renjith, Sankhla, Dilip, Al-Futaisi, Amna
Médium: Artigo
Jazyk:Inglês
Vydáno: Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3706122/
https://ncbi.nlm.nih.gov/pubmed/23862038
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