• A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome
• A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (<em>NFIX</em>) Gene Has Phenotypic Features of Marshall-Smith Syndrome
• A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome
• A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome
• Cinacalcet corrects hypercalcemia in mice with an inactivating Gα11 mutation
• Congenital cataract and congenital glaucoma in Marshall-Smith syndrome
• Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
• Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature
• Further delineation of Malan syndrome
• Malan syndrome: Extension of genotype and phenotype spectrum
• Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis
• Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation
• Mutations in <em>NSD1</em> and <em>NFIX</em> in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome
• NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review
• Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing
• Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism
• Successful respiratory management of a Marshall-Smith syndrome patient with a tracheo-innominate artery fistula
• Traumatic globe rupture in a patient with Marshall-Smith Syndrome
• Variants in nuclear factor I genes influence growth and development