Coffin-Lowry syndrome: a multicenter study.
The Coffin-Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The occurrence of severe manifestations in males, with no instance of male-to-male transmission, suggests an X-linked inheritance. The paper describes seven families from five European Centers.
Gilgenkrantz
S
S
Unité de Génétique, Université de Nancy, France.
Mujica
P
P
Gruet
P
P
Tridon
P
P
Schweitzer
F
F
Nivelon-Chevallier
A
A
Nivelon
J L
JL
Couillault
G
G
David
A
A
Verloes
A
A
D000328:Adult; D002648:Child; D003878:Dermatoglyphics; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D015337:Multicenter Studies as Topic; D010375:Pedigree; D012886:Skull / Q000002:abnormalities*; D014960:X Chromosome