Marshall-Smith Syndrome Latest Advances

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

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Journal: Journal of intellectual disability research : JIDR

Published: October 31, 2019

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

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

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

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

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

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

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

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

A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) 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.

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

Congenital cataract and congenital glaucoma in Marshall-Smith syndrome.

Congenital cataract and congenital glaucoma in Marshall-Smith syndrome.

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

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

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

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

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

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

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

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

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.