Work

Familial cartilage–hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants

Year: 2026

Type: article

Study design: Case Report

Source: BMJ Case Reports

DOI: 10.1136/bcr-2025-267490

Authors: Catarina Portela Carvalho, Andreia Martins, Inês Alves, Luís Guedes-Martins

Institutions: Universidade do Porto, Unidade Local de Saúde de Santo António EPE, Instituto de Ciências Biomédicas Albel Salazar, Centro Hospitalar do Porto, University of Évora

Language: English

Topic: Prenatal Screening and Diagnostics

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7130647897

FWCI:

Cites: 13

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