Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Jamsheer, Aleksander

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

Publication Type: Case Reports; Journal Article

1435-232X

10.1038/jhg.2016.30 doi


Adult
Craniofacial Abnormalities--diagnosis
DNA Mutational Analysis
Dwarfism--diagnosis
Dwarfism, Pituitary--diagnosis
Exome
Female
Haplotypes
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Joint Instability--diagnosis
Male
Microsatellite Repeats
Mutation
Ossification, Heterotopic--diagnosis
Pentosyltransferases--genetics
Phenotype
Poland
Polydactyly--diagnosis
Pregnancy
Prenatal Diagnosis
Skeleton--diagnostic imaging
UDP Xylose-Protein Xylosyltransferase