Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 4 publications
A male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia.
Journal: Clinical dysmorphology
Published: May 28, 2026
A Case of Encephalocraniocutaneous Lipomatosis (ECCL) With Atypical Clinical Presentation Diagnosed on Molecular Testing: FGFR1 ECCL Tumor Risk.
Journal: American journal of medical genetics. Part A
Published: January 07, 2026
Primrose syndrome with a novel ZBTB20 variant with congenital glaucoma and hydrocephalus.
Journal: Clinical dysmorphology
Published: October 08, 2025
Genome-wide association study of early-stage non-small cell lung cancer prognosis: a pooled analysis in the International Lung Cancer Consortium.
Journal: Carcinogenesis
Published: January 11, 2025
Showing 1-4 of 4
Last Updated: 09/26/2026