A new three-generational family with frontometaphyseal dysplasia, male-to-female transmission, and a previously reported FLNA mutation.
Giuliano
Fabienne
F
Collignon
Patrick
P
Paquis-Flucklinger
Véronique
V
Bardot
Jacques
J
Philip
Nicole
N
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D003285:Contractile Proteins / Q000235:genetics*; D005192:Family Health; D005260:Female; D064448:Filamins; D005385:Fingers / Q000002:abnormalities; D005624:Frontal Bone / Q000002:abnormalities*; D006801:Humans; D006972:Hypertelorism / Q000473:pathology*; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D013577:Syndrome; D014071:Tooth Abnormalities
D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins