Document Detail


FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).
MedLine Citation:
PMID:  17213838     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Aplasia of lacrimal and salivary glands (ALSG) is an autosomal dominant congenital anomaly characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems. Affected individuals present with irritable eyes and dryness of the mouth with variable expressivity. Mutations in FGF10 were recently described in ALSG and in lacrimo-auriculo-dento-digital (LADD) syndrome which are overlapping clinical entities. We present here two families with ALSG associated with missense mutations (R80S and G138E, respectively) affecting highly conserved residues in FGF10. The clinical features of these patients further broaden the knowledge of FGF10-related phenotypes.
Authors:
Miriam Entesarian; Johanna Dahlqvist; Vandana Shashi; Christy S Stanley; Babak Falahat; William Reardon; Niklas Dahl
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-01-10
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  15     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2007 Mar 
Date Detail:
Created Date:  2007-02-22     Completed Date:  2007-04-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  379-82     Citation Subset:  IM    
Affiliation:
The Rudbeck Laboratory, Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
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MeSH Terms
Descriptor/Qualifier:
Amino Acid Sequence
Amino Acid Substitution
Child, Preschool
Female
Fibroblast Growth Factor 10 / genetics*
Humans
Lacrimal Apparatus / abnormalities*
Male
Molecular Sequence Data
Mutation, Missense*
Pedigree
Salivary Glands / abnormalities*
Chemical
Reg. No./Substance:
0/FGF10 protein, human; 0/Fibroblast Growth Factor 10

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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