原创力文档an intronic alteration of the fibroblast growth factor 10 gene causing alsg-(aplasia of lacrimal and salivary glands) syndrome纤维母细胞生长因子10基因的intronic变更导致alsgu2014u2014(泪和唾液腺发育不全综合症.pdfVIP
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an intronic alteration of the fibroblast growth factor 10 gene causing alsg-(aplasia of lacrimal and salivary glands) syndrome纤维母细胞生长因子10基因的intronic变更导致alsgu2014u2014(泪和唾液腺发育不全综合症
BMC Medical Genetics BioMed Central
Research article Open Access
An intronic alteration of the fibroblast growth factor 10 gene
causing ALSG-(aplasia of lacrimal and salivary glands) syndrome
† †
Kathrin Scheckenbach* , Vera Balz , Martin Wagenmann and
Thomas K Hoffmann
Address: Department of Otorhinolaryngology, Heinrich-Heine-University, Düsseldorf, Germany
Email: Kathrin Scheckenbach* - scheckenbach@med.uni-duesseldorf.de; Vera Balz - balz@med.uni-duesseldorf.de;
Martin Wagenmann - martin.wagenmann@uni-duesseldorf.de; Thomas K Hoffmann - thomas.hoffmann@med.uni-duesseldorf.de
* Corresponding author †Equal contributors
Published: 22 December 2008 Received: 6 November 2007
Accepted: 22 December 2008
BMC Medical Genetics 2008, 9:114 doi:10.1186/1471-2350-9-114
This article is available from: /1471-2350/9/114
© 2008 Scheckenbach et al; licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (/licenses/by/2.0),
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Background: A combined aplasia, hypoplasia or atresia of lacrimal points and salivary glands is
rarely diagnosed. Those patients suffer from epiphora, xerostomia and severe dental caries. This
phenotype represents the autosomal-dominant aplasia of lacrimal and salivary glands syndrome
(ALSG). Recently, aberrations of the Fibroblast Growth Facto
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