lethal multiple pterygium syndrome

lethal multiple pterygium syndrome
a lethal autosomal recessive disorder caused by mutations in any of several genes that encode acetylcholine receptor components, characterized by multiple pterygia, lung hypoplasia, flexion contractures of the limbs, characteristic facies, and other abnormalities.

Medical dictionary. 2011.

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  • multiple pterygium syndrome — 2. an autosomal recessive syndrome caused by mutations in the CHRNG gene (locus: 2q33 q34), which encodes an acetylcholine receptor subunit. It is characterized by pterygia of the neck, axillae, and popliteal, antecubital, and intercrural areas,… …   Medical dictionary

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • LMPS — lethal multiple pterygium syndrome …   Medical dictionary

  • LMPS — • lethal multiple pterygium syndrome …   Dictionary of medical acronyms & abbreviations

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  • NAChR — Nikotinischer Acetylcholinrezeptor Der ACh n Rezeptor aus dem Zitterrochen (Torpedo). Oben: Seitenansicht in der Zellmembran …   Deutsch Wikipedia

  • NAchR — Nikotinischer Acetylcholinrezeptor Der ACh n Rezeptor aus dem Zitterrochen (Torpedo). Oben: Seitenansicht in der Zellmembran …   Deutsch Wikipedia

  • Nicotinerg — Nikotinischer Acetylcholinrezeptor Der ACh n Rezeptor aus dem Zitterrochen (Torpedo). Oben: Seitenansicht in der Zellmembran …   Deutsch Wikipedia

  • Nicotinischer Acetylcholinrezeptor — Nikotinischer Acetylcholinrezeptor Der ACh n Rezeptor aus dem Zitterrochen (Torpedo). Oben: Seitenansicht in der Zellmembran …   Deutsch Wikipedia

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