Work

Neonatal Hydrocolpos in Bardet-Biedl Syndrome due to a Novel Frameshift Indel in the BBS10 Gene

Year: 2024

Type: article

Study design: Case Report

Source: Sexual Development

DOI: 10.1159/000541137

Authors: Maria Helena Palma Sircili, Rafael Loch Batista, Enoch Quindere de Sá Barreto, Solange Paiva Bueno, Anna Flávia Figueredo Benedetti, Flora Ladeira Craveiro, Raquel Matinez Ramos, Marcelo Praxedes Monteiro Filho, Sorahia Domenice, Berenice Bilharinho Mendonca, Francisco Tibor Dénes

Institution: Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo

Language: English

Topic: Genetic and Kidney Cyst Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W4402355608

FWCI: 0.245

Cites: 17

Cited by: 1

Related to: 10