Marshall-Smith Syndrome Latest Advances

Mitral Valve Stenosis in Marshall-Smith Syndrome: Expanding Phenotype Spectrum.

Journal: CASE (Philadelphia, Pa.)

Published: January 19, 2026

Case report: ocular manifestations of NFIX-associated Malan syndrome.

Journal: Ophthalmic genetics

Published: March 24, 2025

NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: July 17, 2024

Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: March 06, 2024

Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing.

Journal: American journal of medical genetics. Part A

Published: September 12, 2023

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features of Marshall-Smith Syndrome.

Journal: JBMR plus

Published: December 05, 2022

A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome.

Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience

Published: November 28, 2022

Congenital cataract and congenital glaucoma in Marshall-Smith syndrome.

Journal: The Pan African medical journal

Published: July 12, 2021

A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome.

Journal: Clinical dysmorphology

Published: July 24, 2020

Successful respiratory management of a Marshall-Smith syndrome patient with a tracheo-innominate artery fistula.

Journal: JA clinical reports

Published: April 04, 2020

Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: February 08, 2020

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.

Journal: American journal of medical genetics. Part A

Published: February 06, 2020