title: Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation.
authors.affiliation: 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.
authors.forename: C
authors.initials: C
authors.lastname: Amiñoso
authors.forename: S
authors.initials: S
authors.lastname: García-Miñaúr
authors.forename: L
authors.initials: L
authors.lastname: Martínez
authors.forename: J A
authors.initials: JA
authors.lastname: Tenorio
authors.forename: J A
authors.initials: JA
authors.lastname: Tovar
authors.forename: P
authors.initials: P
authors.lastname: Lapunzina
authors.forename: J
authors.initials: J
authors.lastname: Solera
mesh_terms: D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*
chemical_list: D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human