A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome.
Zackai
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EH
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, PA, 19104, USA. zackai@email.chop.edu
Stolle
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CA
D000168:Acrocephalosyndactylia / Q000175:diagnosis / Q000235:genetics*; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D003937:Diagnosis, Differential; D017353:Gene Deletion; D006801:Humans; D009687:Nuclear Proteins; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*; D051879:Twist-Related Protein 1
D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D014157:Transcription Factors; D051879:Twist-Related Protein 1