TY  - GEN
AU  - Bieganski,Tadeusz
AU  - Bik,Krzysztof
AU  - Cormier-Daire,Valerie
AU  - Huber,Celine
AU  - Nowicki,Grzegorz
AU  - Kozlowski,Kazimierz
TI  - Severe, atypical form of dyschondrosteosis (report of two cases)
SN  - 0340-6199
PY  - 2006///0511
KW  - Adult
KW  - Ellis-Van Creveld Syndrome
KW  - diagnostic imaging
KW  - Female
KW  - Gene Deletion
KW  - Genetic Predisposition to Disease
KW  - Homeodomain Proteins
KW  - genetics
KW  - Humans
KW  - Infant
KW  - Male
KW  - Pedigree
KW  - Point Mutation
KW  - Radiography
KW  - Severity of Illness Index
KW  - Short Stature Homeobox Protein
KW  - Transcription Factors
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s00431-005-1691-2
ER  -