Jamsheer, Aleksander <br/><br/>
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.  [electronic resource] 

 -  Journal of human genetics  Jul 2016 
 - 577-83 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1435-232X 
<br/><br/><label>Standard No.: </label>10.1038/jhg.2016.30  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Craniofacial Abnormalities--diagnosis<br/>DNA Mutational Analysis<br/>Dwarfism--diagnosis<br/>Dwarfism, Pituitary--diagnosis<br/>Exome<br/>Female<br/>Haplotypes<br/>Heterozygote<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Joint Instability--diagnosis<br/>Male<br/>Microsatellite Repeats<br/>Mutation<br/>Ossification, Heterotopic--diagnosis<br/>Pentosyltransferases--genetics<br/>Phenotype<br/>Poland<br/>Polydactyly--diagnosis<br/>Pregnancy<br/>Prenatal Diagnosis<br/>Skeleton--diagnostic imaging<br/>UDP Xylose-Protein Xylosyltransferase