https://rocaglamideinhibitor.c....om/a-new-longitudina
OUTCOMES All of the patients affected with Treacher Collins problem transported a novel TCOF1 mutation (c.4138_4142del; p.Lys1380GlufsTer12), but medically they did not have the normal facial gestalt of Treacher Collins problem, which include downward-slanting palpebral fissures, colobomas associated with lower eyelids, lack of lashes medial to the colobomas, malformed pinnae, hypoplastic zygomatic bone
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