Lethal Congenital Contracture Syndrome Latest Advances

Find the Latest Research About Lethal Congenital Contracture Syndrome

Last Updated: 09/19/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 51 publications

Lethal Congenital Contracture Syndrome Type 3 in an Isolated Canadian Population.

Lethal Congenital Contracture Syndrome Type 3 in an Isolated Canadian Population.

Journal: American journal of medical genetics. Part A
Published: June 05, 2026

NIMA-related kinase family at the nexus of skeletal development and congenital arthrogryposis: coordinated regulation of cell cycle and ciliary dynamics.

NIMA-related kinase family at the nexus of skeletal development and congenital arthrogryposis: coordinated regulation of cell cycle and ciliary dynamics.

Journal: Frontiers in genetics
Published: May 18, 2026

A case of CNTNAP1 gene-related abnormality and literature review.

A case of CNTNAP1 gene-related abnormality and literature review.

Journal: Technology and health care : official journal of the European Society for Engineering and Medicine
Published: April 16, 2026

MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case.

MYBPC1-associated congenital myopathy with tremor: further delineation of the clinical and pathological phenotype in the first Italian case.

Journal: Frontiers in genetics
Published: February 11, 2026

Expanding the Prenatal Phenotype of Lethal Congenital Contracture Syndrome 11: Novel Homozygous GLDN Variant in a Family With Recurrent Affected Fetuses.

Expanding the Prenatal Phenotype of Lethal Congenital Contracture Syndrome 11: Novel Homozygous GLDN Variant in a Family With Recurrent Affected Fetuses.

Journal: Prenatal diagnosis
Published: October 16, 2025

The evolving genetic landscape of neuromuscular fetal akinesias.

The evolving genetic landscape of neuromuscular fetal akinesias.

Journal: Journal of neuromuscular diseases
Published: May 13, 2025

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.

Journal: Muscle & nerve
Published: April 24, 2025

ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.

ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.

Journal: Neuromuscular disorders : NMD
Published: April 10, 2025

In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responses.

In vivo modeling of lethal congenital contracture syndrome 1 suggests pathomechanisms in cellular stress responses.

Journal: The FEBS journal
Published: March 03, 2025

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Journal: Brain : a journal of neurology
Published: February 21, 2025

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.

Journal: American journal of medical genetics. Part A
Published: November 27, 2024

ERBB3 deficiency causes a multisystemic syndrome in human patient and zebrafish.

ERBB3 deficiency causes a multisystemic syndrome in human patient and zebrafish.

Journal: Clinical genetics
Published: October 18, 2023
Showing 1-12 of 51

Last Updated: 09/19/2026