A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene.
Sendi-Naderi
A
A
Lüdecke
H-J
HJ
Unger
S
S
Kern
J S
JS
Wolff
G
G
Bruckner-Tuderman
L
L
Nashan
D
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D005091:Exons; D005385:Fingers / Q000002:abnormalities*; D006201:Hair Diseases / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome