New mutations associated with Hirschsprung disease.
Lorente-Ros M, Andrés AM, Sánchez-Galán A, Amiñoso C, García S, Lapunzina P, Solera-García J.
An Pediatr (Engl Ed). 2020 Oct;93(4):222-227. doi: 10.1016/j.anpede.2019.05.007. Epub 2020 Jan 31.
PMID:34092334
Prophylactic thyroidectomy in pediatric carriers of multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma: mutation in C620 is associated with Hirschsprung's disease.
Bütter A, Gagné J, Al-Jazaeri A, Emran MA, Deal C, St-Vil D.
Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.
Ito S, Iwashita T, Asai N, Murakami H, Iwata Y, Sobue G, Takahashi M.
Cancer Res. 1997 Jul 15;57(14):2870-2.
PMID:9230192
[Genotype-phenotype correlations in multiple endocrine neoplasia type 2].
Zhang XW, Wang JY, Zhang YB, Wan HF, Zhang B, Yan DG, Liu WS, Xu ZG, Tang PZ.
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2016 Jul 7;51(7):538-41. doi: 10.3760/cma.j.issn.1673-0860.2016.07.011.