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Journal article
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.
Annunen, S
Körkkö, J
Czarny, M
Warman, M L
Brunner, H G
Kääriäinen, H
Mulliken, J B
Tranebjaerg, L
Brooks, D G
Cox, G F
Cruysberg, J R
Curtis, M A
Davenport, S L
Friedrich, C A
Kaitila, I.
Krawczynski, M R
Latos-Bielenska, A
Mukai, S
Olsen, B R
Shinno, N
Somer, M
Vikkula, Miikka
[UCL]
Zlotogora, J
Prockop, D J
Ala-Kokko, L
(1999)
American journal of human genetics — Vol. 65, no. 4, p. 974-83 (1999)