A male infant with a novel heterogeneous nuclear ribonucleoprotein H1 variant, bilateral cataracts, dysplastic thumbs, and severe airway malacia

Clinical Dysmorphology 2026

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Authors: Abhinav Thakral, Christina Theodoris, Robert J. Wallerstein

DOI: 10.1097/mcd.0000000000000557

Cited by: 0

References: 4

Fields of Study & Subjects

Genomics and Rare Diseases Congenital limb and hand anomalies Connective tissue disorders research

References 4