Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene. [electronic resource]
Producer: 20030117Description: E3 p. digitalISSN:- 1523-6838
- Adrenal Gland Neoplasms -- genetics
- Amino Acid Substitution -- genetics
- Child
- Cryptorchidism -- genetics
- Developmental Disabilities -- genetics
- Genes, Tumor Suppressor
- Germ-Line Mutation -- genetics
- Glycine -- genetics
- Hearing Loss, Bilateral -- genetics
- Humans
- Ligases -- genetics
- Male
- Microcephaly -- genetics
- Multiple Endocrine Neoplasia Type 2a -- genetics
- Mutation, Missense -- genetics
- Pheochromocytoma -- genetics
- Serine -- genetics
- Syndrome
- Tumor Suppressor Proteins
- Ubiquitin-Protein Ligases
- Von Hippel-Lindau Tumor Suppressor Protein
- von Hippel-Lindau Disease -- genetics
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Publication Type: Case Reports; Journal Article
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