A de novo GLI3 mutation in a patient with acrocallosal syndrome. [electronic resource]
Producer: 20160415Description: 1394-400 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- diagnosis
- Acrocallosal Syndrome -- diagnosis
- Acrocephalosyndactylia -- diagnosis
- Amino Acid Substitution
- Craniosynostoses -- diagnosis
- Diagnosis, Differential
- Female
- Genetic Association Studies
- Heterozygote
- Humans
- Infant
- Kruppel-Like Transcription Factors -- genetics
- Mutation, Missense
- Nerve Tissue Proteins -- genetics
- Phenotype
- Pregnancy
- Prenatal Diagnosis
- Zinc Finger Protein Gli3
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Publication Type: Case Reports; Journal Article
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