Disease: Marshall-Smith syndrome
- 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
- 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