EYA1 mutation in a newborn female presenting with cardiofacial syndrome. [electronic resource]
Producer: 20050908Description: 411-3 p. digitalISSN:- 0172-0643
- Branchio-Oto-Renal Syndrome -- genetics
- DNA Mutational Analysis
- Diagnosis, Differential
- Facial Asymmetry -- congenital
- Female
- Heart Defects, Congenital -- genetics
- Humans
- Infant, Newborn
- Intracellular Signaling Peptides and Proteins
- Nuclear Proteins
- Phenotype
- Point Mutation -- genetics
- Protein Tyrosine Phosphatases
- Sequence Deletion -- genetics
- Trans-Activators -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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