Lethal Congenital Contracture Syndrome Latest Advances

Find the Latest Research About Lethal Congenital Contracture Syndrome

Last Updated: 06/30/2026

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Found 49 publications

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

Falling through the cracks: Failing to identify compromised Miranda abilities for defendants with limited cognitive capacities.

Falling through the cracks: Failing to identify compromised Miranda abilities for defendants with limited cognitive capacities.

Journal: Behavioral sciences & the law

Published: November 13, 2022

Novel variants of NEK9 associated with neonatal arthrogryposis: Two case reports and a literature review.

Novel variants of NEK9 associated with neonatal arthrogryposis: Two case reports and a literature review.

Journal: Frontiers in genetics

Published: July 08, 2022

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Last Updated: 06/30/2026