A Founding Locus within the RET Proto-Oncogene May Account for a Large Proportion of Apparently Sporadic Hirschsprung Disease and a Subset of Cases of Sporadic Medullary Thyroid Carcinoma

Hirschsprung disease (HSCR) is a common congenital disorder characterized by aganglionosis of the gut. The seemingly unrelated multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant disorder characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and hyperparathyroidism....

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Detaylı Bibliyografya
Asıl Yazarlar: Borrego, Salud, Wright, Fred A., Fernández, Raquel M., Williams, Nita, López-Alonso, Manuel, Davuluri, Ramana, Antiñolo, Guillermo, Eng, Charis
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The American Society of Human Genetics 2003
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Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC420016/
https://ncbi.nlm.nih.gov/pubmed/12474140
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