Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome. [electronic resource]
Producer: 20080122Description: 506-16 p. digitalISSN:- 0009-9163
- Adolescent
- Base Sequence
- Child, Preschool
- Craniofacial Abnormalities -- genetics
- Cytoskeletal Proteins -- deficiency
- DNA Primers -- genetics
- Ectodysplasins -- deficiency
- Ephrin-B1 -- deficiency
- Female
- GTPase-Activating Proteins -- deficiency
- Gene Deletion
- Genetic Diseases, X-Linked -- genetics
- Heterozygote
- Humans
- Nuclear Proteins -- deficiency
- Phenotype
- Syndrome
- Ubiquitin-Protein Ligases -- deficiency
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Publication Type: Case Reports; Journal Article
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