Lan Zeng

Chengdu, China

Last Updated: 09/26/2026

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Found 20 publications

A novel SEMA6B splice-site variant (c.1680-2A>G) causes incompletely penetrant epilepsy via diverse aberrant transcripts.

A novel SEMA6B splice-site variant (c.1680-2A>G) causes incompletely penetrant epilepsy via diverse aberrant transcripts.

Journal: Seizure

Published: February 02, 2026

A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report.

A novel pathogenic variant in POLR1D (c.220dup, p.His74ProfsTer8) causes Treacher Collins syndrome type 2 in a Chinese patient: a case report.

Journal: BMC pediatrics

Published: July 12, 2025

CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family.

CUX1 variant and 9p deletion: expanding the spectrum and resolving variable GDD/ID in a family.

Journal: BMC medical genomics

Published: May 31, 2025

A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis.

A novel EVC2 splice-site variant expands the mutational and phenotypic spectrum of Weyers acrofacial dysostosis.

Journal: BMC medical genomics

Published: April 18, 2025

Incomplete penetrance and variable phenotypes of a novel NPRL2 frameshift variant: from familial focal epilepsy with variable foci 2 to neurodevelopmental disorders.

Incomplete penetrance and variable phenotypes of a novel NPRL2 frameshift variant: from familial focal epilepsy with variable foci 2 to neurodevelopmental disorders.

Journal: BMC neurology

Published: March 27, 2025

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses.

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses.

Journal: BMC medical genomics

Published: December 23, 2024

A Novel HECW2 Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia.

A Novel HECW2 Variant (c.4354G>A; p. Gly1452Ser) in a Chinese Patient with Developmental Delay, Neurodevelopmental Delay, and Hypotonia.

Journal: Molecular syndromology

Published: September 15, 2024

Genetic analysis of partial duplication of the long arm of chromosome 16.

Genetic analysis of partial duplication of the long arm of chromosome 16.

Journal: BMC medical genomics

Published: September 10, 2024

Genotype-phenotype correlation of ODLURO syndrome comorbid epilepsy associated with KMT2E variations: Report on a novel case and systematic literature review.

Genotype-phenotype correlation of ODLURO syndrome comorbid epilepsy associated with KMT2E variations: Report on a novel case and systematic literature review.

Journal: Epilepsy & behavior : E&B

Published: August 11, 2024

Prenatal diagnosis of monozygotic twins with phenotypic differences in chromosome 17q12 deletion syndrome.

Prenatal diagnosis of monozygotic twins with phenotypic differences in chromosome 17q12 deletion syndrome.

Journal: Journal of clinical ultrasound : JCU

Published: July 08, 2024

Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report.

Dual diagnosis of microcephalic osteosplastic primary dwarfism type II and benign familial infantile seizure type 2: a case report.

Journal: Clinical dysmorphology

Published: March 05, 2024

Genetic Analysis of De Novo Variants in KMT2A mixed-lineage leukemia Identified in a Family of Wiedermann-Steiner Syndromes.

Genetic Analysis of De Novo Variants in KMT2A mixed-lineage leukemia Identified in a Family of Wiedermann-Steiner Syndromes.

Journal: Annals of Indian Academy of Neurology

Published: February 14, 2024

Showing 1-12 of 20

Last Updated: 09/26/2026