Mydriasis in association with MMIHS in a female infant: evidence for involvement of the neuronal nicotinic acetylcholine receptor

M Narayanan; Michael Murphy; JR Ainsworth; G Arul

doi:10.1016/j.jpedsurg.2007.02.023

Mydriasis in association with MMIHS in a female infant: evidence for involvement of the neuronal nicotinic acetylcholine receptor

M Narayanan, Michael Murphy, JR Ainsworth, G Arul

Birmingham Medical School

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Abstract

We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), occurring in association with mydriasis, in a female infant born to consanguineous Asian parents. This association has not previously been reported and is of interest because mydriasis has been found in a murine MMIHS model produced by knockout of the genes coding for the alpha3 subunit or the beta2 and beta4 subunits of the neuronal nicotinic acetylcholine receptor. This may provide an important clue to the genetic basis of MMIHS in humans.

Original language	English
Pages (from-to)	1288-1290
Number of pages	3
Journal	Journal of pediatric surgery
Volume	42
Issue number	7
DOIs	https://doi.org/10.1016/j.jpedsurg.2007.02.023
Publication status	Published - 1 Jul 2007

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10.1016/j.jpedsurg.2007.02.023

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title = "Mydriasis in association with MMIHS in a female infant: evidence for involvement of the neuronal nicotinic acetylcholine receptor",

abstract = "We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), occurring in association with mydriasis, in a female infant born to consanguineous Asian parents. This association has not previously been reported and is of interest because mydriasis has been found in a murine MMIHS model produced by knockout of the genes coding for the alpha3 subunit or the beta2 and beta4 subunits of the neuronal nicotinic acetylcholine receptor. This may provide an important clue to the genetic basis of MMIHS in humans.",

author = "M Narayanan and Michael Murphy and JR Ainsworth and G Arul",

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AU - Murphy, Michael

AU - Ainsworth, JR

AU - Arul, G

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N2 - We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), occurring in association with mydriasis, in a female infant born to consanguineous Asian parents. This association has not previously been reported and is of interest because mydriasis has been found in a murine MMIHS model produced by knockout of the genes coding for the alpha3 subunit or the beta2 and beta4 subunits of the neuronal nicotinic acetylcholine receptor. This may provide an important clue to the genetic basis of MMIHS in humans.

AB - We report a case of megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), occurring in association with mydriasis, in a female infant born to consanguineous Asian parents. This association has not previously been reported and is of interest because mydriasis has been found in a murine MMIHS model produced by knockout of the genes coding for the alpha3 subunit or the beta2 and beta4 subunits of the neuronal nicotinic acetylcholine receptor. This may provide an important clue to the genetic basis of MMIHS in humans.

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DO - 10.1016/j.jpedsurg.2007.02.023

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JO - Journal of pediatric surgery

JF - Journal of pediatric surgery

IS - 7

ER -

Mydriasis in association with MMIHS in a female infant: evidence for involvement of the neuronal nicotinic acetylcholine receptor

Abstract

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