EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report. [electronic resource]
Producer: 20130404Description: 483-5 p. digitalISSN:- 1015-8146
- Abnormalities, Multiple -- diagnosis
- Cleft Lip -- complications
- Cleft Palate -- complications
- DNA Mutational Analysis -- methods
- Ectodermal Dysplasia -- complications
- Exons
- Female
- Genetic Predisposition to Disease -- genetics
- Heart Septal Defects, Atrial -- complications
- Humans
- Infant, Newborn
- Membrane Proteins -- genetics
- Mutation, Missense -- genetics
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Publication Type: Case Reports; Journal Article
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