Phenotype variation in Treacher Collins Syndrome: from missense to splice site mutations.
Daniel Richard
DR
van Gijn
Abigail S
AS
Tucker
Martyn T
MT
Cobourne
D005147:Facial Bones / Q000254:growth & development*; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D012886:Skull / Q000254:growth & development*