TY  - GEN
AU  - Schlump,Jan-Ulrich
AU  - Stein,Anja
AU  - Hehr,Ute
AU  - Karen,Tanja
AU  - Möller-Hartmann,Claudia
AU  - Elcioglu,Nursel H
AU  - Bogdanova,Nadja
AU  - Woike,Hartmut Fritz
AU  - Lohmann,Dietmar R
AU  - Felderhoff-Mueser,Ursula
AU  - Linz,Annette
AU  - Wieczorek,Dagmar
TI  - Treacher Collins syndrome: clinical implications for the paediatrician--a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature
SN  - 1432-1076
PY  - 2013///0425
KW  - Child
KW  - Female
KW  - Frameshift Mutation
KW  - Genetic Markers
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Mandibulofacial Dysostosis
KW  - diagnosis
KW  - Nuclear Proteins
KW  - genetics
KW  - Phenotype
KW  - Phosphoproteins
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1007/s00431-012-1776-7
ER  -