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Article

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

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Jul 2024

Lin Xue-Qin, Quan Yu-Lin, He Hai-Lan, Peng Jing

Abstract excerpt

This article reports on the clinical and genetic characteristics of monozygotic twins with Marshall-Smith syndrome (MRSHSS) due to a mutation in the NFIX gene, along with a review of related literature. Both patients presented with global developmental delays, a prominent forehead, shallow eye sockets, and pectus excavatum. Genetic testing revealed a heterozygous splicing site mutation c.697+1G>A in both...

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Share to Abnormalities, Multiple
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39014953
DOI: 10.7499/j.issn.1008-8830.2401047
PMCID: PMC11562048

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