Work

Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease

Year: 1999

Type: article

Source: The American Journal of Human Genetics

DOI: 10.1086/302329

Authors: Alberto Auricchio, Paola Griseri, Maria Luisa Carpentieri, Nicola Betsos, Annamaria Staiano, Arturo Tozzi, Manuela Priolo, Helen Thompson, Renata Bocciardi, Giovanni Romeo, Andrea Ballabio, Isabella Ceccherini

Institutions: Telethon Institute Of Genetics And Medicine, Istituto Giannina Gaslini, University of Naples Federico II, University of Genoa

Language: English

Topic: Congenital gastrointestinal and neural anomalies

Subfield: Surgery

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2121250859

FWCI: 6.817

Cites: 42

Cited by: 90

Related to: 10