Zhenqing Luo

86 Ziyuan Road
Changsha, China

Last Updated: 09/26/2026

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Found 11 publications

Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.

Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: April 14, 2025

Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells.

Synostosis of joints caused by mutant FBN2 is linked to the abnormalities and misdifferentiation of articular surface cells.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 19, 2024

Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192.

Mosaic variegated aneuploidy syndrome with tetraploid, and predisposition to male infertility triggered by mutant CEP192.

Journal: HGG advances

Published: August 03, 2023

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.

Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E.

Journal: Journal of clinical immunology

Published: August 30, 2022

Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.

Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.

Journal: Frontiers in genetics

Published: November 29, 2021

Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum.

Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum.

Journal: Human genetics

Published: November 10, 2021

MECOM-related disorder: Radioulnar synostosis without hematological aberration due to unique variants.

MECOM-related disorder: Radioulnar synostosis without hematological aberration due to unique variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 14, 2021

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.

Journal: Molecular genetics & genomic medicine

Published: October 04, 2021

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Journal: Human mutation

Published: May 05, 2021

Disorder of Sexual Development Males With XYY in Blood Have Exactly X/XY/XYY Mosaicism in Gonad Tissues.

Disorder of Sexual Development Males With XYY in Blood Have Exactly X/XY/XYY Mosaicism in Gonad Tissues.

Journal: Frontiers in genetics

Published: October 26, 2020

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.

Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms.

Journal: BMC medical genetics

Published: June 25, 2019

Showing 1-11 of 11

Last Updated: 09/26/2026