TY  - GEN
AU  - Bode,Harald
AU  - Galm,Christoph
AU  - Hummler,Helmut
AU  - Teller,Christopher
AU  - Haas,Dorothea
AU  - Gencik,Martin
TI  - Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation
SN  - 1552-4833
PY  - 2014///0326
KW  - Chondrodysplasia Punctata
KW  - diagnosis
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Genotype
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Steroid Isomerases
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.35985
ER  -