Figure 2. . Individuals with TCS and a detected TCOF1 mutation (a-k).

Figure 2.

Individuals with TCS and a detected TCOF1 mutation (a-k). Photographs are arranged according to the location of the mutation in TCOF1.
a. Patient M17639 ; mutation Met1Ile
b. Patient M17807; 121Ter
c. Patient M20194; 209Ter
d. Patient M19731; Lys367Ter
e. Patient M18982; Gln563Ter
f. Patient M18923; 795Ter
g. Patient M17629; Gln818Ter
h. Patient M18013; 854Ter
i. Patient M18774; Gly848Ter
j. Patient M17995; c.2629-3A>G
k. Patient M18293; 1392Ter

Reprinted by permission from Nature Publishing Group [Teber et al 2004]

From: Treacher Collins Syndrome

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