TY  - GEN
AU  - Meyer,Sascha
AU  - Löffler,Günther
AU  - Gencik,Martin
AU  - Fries,Peter
AU  - Papanagiotou,Panagiotis
AU  - Oehl-Jaschkowitz,Barbara
AU  - Gortner,Ludwig
TI  - Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate
SN  - 1552-4833
PY  - 2013///0805
KW  - Arylsulfatases
KW  - genetics
KW  - Chondrodysplasia Punctata
KW  - diagnostic imaging
KW  - Genetic Diseases, X-Linked
KW  - Hemizygote
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Mutation, Missense
KW  - Radiography
N1  - Publication Type: Case Reports; Letter
UR  - https://doi.org/10.1002/ajmg.a.35758
ER  -