Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options
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Melnick-Needles syndrome (MNS) is a rare X-linked dominant skeletal dysplasia caused by pathogenic FLNA variants, primarily affecting females due to male lethality. Characterised by severe craniofacial and skeletal abnormalities, MNS exhibits marked phenotypic... ...
