Assadi, Farahnak <br/><br/>
Bilateral pheochromocytomas and congenital anomalies associated with a de novo germline mutation in the von Hippel-Lindau gene.  [electronic resource] 

 -  American journal of kidney diseases : the official journal of the National Kidney Foundation  Jan 2003 
 - E3 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1523-6838 
<br/><br/><label>Standard No.: </label>10.1053/ajkd.2003.50021  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adrenal Gland Neoplasms--genetics<br/>Amino Acid Substitution--genetics<br/>Child<br/>Cryptorchidism--genetics<br/>Developmental Disabilities--genetics<br/>Genes, Tumor Suppressor<br/>Germ-Line Mutation--genetics<br/>Glycine--genetics<br/>Hearing Loss, Bilateral--genetics<br/>Humans<br/>Ligases--genetics<br/>Male<br/>Microcephaly--genetics<br/>Multiple Endocrine Neoplasia Type 2a--genetics<br/>Mutation, Missense--genetics<br/>Pheochromocytoma--genetics<br/>Serine--genetics<br/>Syndrome<br/>Tumor Suppressor Proteins<br/>Ubiquitin-Protein Ligases<br/>Von Hippel-Lindau Tumor Suppressor Protein<br/>von Hippel-Lindau Disease--genetics