Benoit, S <br/><br/>
[Dyskeratosis congenita in a 40-year-old patient].  [electronic resource] 

 -  Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete  Apr 2006 
 - 313-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>0017-8470 
<br/><br/><label>Standard No.: </label>10.1007/s00105-005-0937-2  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Amino Acid Substitution--genetics<br/>Cell Cycle Proteins--genetics<br/>Chromosomes, Human, X<br/>Diagnosis, Differential<br/>Dyskeratosis Congenita--diagnosis<br/>Exons<br/>Genes, Recessive<br/>Genetic Carrier Screening<br/>Humans<br/>Isoleucine--genetics<br/>Male<br/>Methionine--genetics<br/>Mutation, Missense<br/>Nuclear Proteins--genetics<br/>Sex Chromosome Aberrations<br/>Thrombocytopenia--etiology