Work

Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome

Year: 2009

Type: article

Study design: Case Report

Source: European Journal of Endocrinology

DOI: 10.1530/eje-08-0865

Authors: Eduardo Fernández-Rebollo, Olga Pérez, Cristina Martinez-Bouzas, Maria Carmen Cotarelo-Pérez, Intza Garin, Jose Luis Ruibal, Gustavo Pérez-Nanclares, Luis Castaño, Guiomar Pérez de Nanclares

Institutions: Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Hospital de Cruces, Hospital Clínico San Carlos

Language: English

Topic: Congenital Ear and Nasal Anomalies

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Instituto de Salud Carlos III

OpenAlex ID: W2131509366

FWCI: 0.691

Cites: 27

Cited by: 10

Related to: 10