Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome
Identifieur interne : 007902 ( Istex/Curation ); précédent : 007901; suivant : 007903Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome
Auteurs : C. Palka [Italie] ; R. Giuliani [Italie] ; F. Brancati [Italie] ; A. Mohn [Italie] ; A. Di Muzio [Italie] ; O. Calabrese [Italie] ; A. Huebner [Allemagne] ; D. De Grandis [Italie] ; F. Chiarelli [Italie] ; A. Ferlini [Italie] ; L. Stuppia [Italie]Source :
- Clinical Genetics [ 0009-9163 ] ; 2010-03.
English descriptors
- KwdEn :
- Aaa, Aaas gene, Achalasia, Alacrimia, Aladin, Allgrove, Allgrove syndrome, Cell biol, Clin, Clin genet, Distal muscles, Edentulism, Generalized weakness, Genet, Hypotrophy, Intrinsic hand muscles, Malar hypoplasia, Mutation, Nasal speech, Normal parameters, Novel aaas mutation, Nuclear pore, Phenotypic spectrum, Pore, Schirmer test alacrimia, Scrotal tongue, Syndrome, Thin legs, Uneventful pregnancy.
- Teeft :
- Aaa, Aaas gene, Achalasia, Alacrimia, Aladin, Allgrove, Allgrove syndrome, Cell biol, Clin, Clin genet, Distal muscles, Edentulism, Generalized weakness, Genet, Hypotrophy, Intrinsic hand muscles, Malar hypoplasia, Mutation, Nasal speech, Normal parameters, Novel aaas mutation, Nuclear pore, Phenotypic spectrum, Pore, Schirmer test alacrimia, Scrotal tongue, Syndrome, Thin legs, Uneventful pregnancy.
Url:
DOI: 10.1111/j.1399-0004.2009.01348.x
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<term>Mutation</term>
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<term>Normal parameters</term>
<term>Novel aaas mutation</term>
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<term>Phenotypic spectrum</term>
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<term>Edentulism</term>
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<term>Genet</term>
<term>Hypotrophy</term>
<term>Intrinsic hand muscles</term>
<term>Malar hypoplasia</term>
<term>Mutation</term>
<term>Nasal speech</term>
<term>Normal parameters</term>
<term>Novel aaas mutation</term>
<term>Nuclear pore</term>
<term>Phenotypic spectrum</term>
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