A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

Abstract: La sindrome di Usher tipo 1 comprende l'associazione di sordità congenita profonda neurosensoriale, disturbi vestibolari e retinite pigmentosa 1 in età pediatrica. La condizione autosomalo recessiva si differenzia dal tipo 1A fino a 1E. Gli autori presentano le caratteristiche del quadro genetico della sindrome mettendo in risalto il ruolo dei geni ABCC8 e KCNJ11. Tra le eziologie ipotizzano anche la consanguineità genitoriale e segnalano la mutazione genetica che caratterizza la preva ...; [read all]

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A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene / Bitner-Glindzicz, Maria; Lindley, Keith J.; Rutland, Paul; Blaydon, Diana; Smith, Virpi V.; Milla, Peter J.; Hussain, Khalid; Furth-Lavi, Judith; Cosgrove, Karen E.; Shepherd, Ruth M.; Barnes, Philippa D.; O'Brien, Rachel E.; Farndon, Peter A.; Sowden, Jane; Liu, Xue-Zhong; Scanlan, Matthew J.; Malcolm, Sue; Dunne, Mark J.; Aynsley-Green, Albert; Glaser, Benjamin. - Nature Genetics ; 2000, 26 ; pp. 56-50

[Is part of] Nature genetics / Nature Publishing Group 2000, 26, 1 ; pp. 56-50

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ISSN: 1061-4036
DOI: 10.1038/79178

Authors

Aynsley-Green, Albert - [Author]
Barnes, Philippa D. - [Author]
Blaydon, Diana - [Author]
Cosgrove, Karen E. - [Author]
Dunne, Mark J. - [Author]
Farndon, Peter A. - [Author]
Furth-Lavi, Judith - [Author]
Glaser, Benjamin - [Author]
Hussain, Khalid - [Author]
Lindley, Keith J. - [Author]
Liu, Xue-Zhong - [Author]
Malcom, Sue - [Author]
Milla, Peter J. - [Author]
O'Brien, Rachel E. - [Author]
Rutland, Paul - [Author]
Scanlan, Matthew, J. - [Author]
Shepherd, Ruth M. - [Author]
Smith, Virpi V. - [Author]
Sowden, Jane - [Author]
Bitner-Glindzicz, Maria - [Main author] - [Author]

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New York

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Nature Publishing Co - [Editor/publisher]

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Aynsley-Green, Albert

A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

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