Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation

Clin Genet. 2014 Apr;85(4):401-2. doi: 10.1111/cge.12163. Epub 2013 May 13.

Authors

C Amiñoso¹, S García-Miñaúr, L Martínez, J A Tenorio, J A Tovar, P Lapunzina, J Solera

Affiliation

¹ Molecular Oncogenetics Section, Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain; Unit 753, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

PMID: 23663121
DOI: 10.1111/cge.12163

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Female
Hirschsprung Disease / genetics*
Humans
Male
Mutation*
Pedigree
Pregnancy
Proto-Oncogene Proteins c-ret / genetics*

Substances

Proto-Oncogene Proteins c-ret
RET protein, human