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Last Updated: 10/31/2025

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Found 5 publications

Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations.

Genotype-phenotype correlation in Gordon's syndrome: report of two cases carrying novel heterozygous mutations.

Journal: Journal of nephrology
Published: February 24, 2021

Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.

Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.

Journal: PloS one
Published: July 25, 2014

Corneal impairment in a patient with type 2 distal arthrogryposis.

Corneal impairment in a patient with type 2 distal arthrogryposis.

Journal: Eye & contact lens
Published: December 04, 2013

A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.

A gain-of-function mutation in Tnni2 impeded bone development through increasing Hif3a expression in DA2B mice.

Journal: PLoS genetics
Published: October 22, 2013

Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.

Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.

Journal: Clinical genetics
Published: May 10, 2013
Showing 1-5 of 5

Last Updated: 10/31/2025