TY - JOUR
T1 - Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome
AU - Hennekam, R. C.
PY - 1994
Y1 - 1994
N2 - A girl with slowly progressive difficulty in walking, dysarthria, growth retardation, brachydactyly, and cone shaped epiphyses is described. This constellation of symptoms was described in 1987 by Fitzsimmons and Guilbert. It probably represents a rare mendelian disorder of unknown cause
AB - A girl with slowly progressive difficulty in walking, dysarthria, growth retardation, brachydactyly, and cone shaped epiphyses is described. This constellation of symptoms was described in 1987 by Fitzsimmons and Guilbert. It probably represents a rare mendelian disorder of unknown cause
U2 - https://doi.org/10.1136/jmg.31.3.251
DO - https://doi.org/10.1136/jmg.31.3.251
M3 - Comment/Letter to the editor
C2 - 8014978
SN - 0022-2593
VL - 31
SP - 251
EP - 252
JO - Journal of medical genetics
JF - Journal of medical genetics
IS - 3
ER -