Article

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita

2022-10-11

Abstract excerpt

<title>Abstract</title> <p>Arthrogryposis multiplex congenita forms a broad group of clinically and etiologically heterogeneous disorders characterized by congenital joint contractures that involve at least two different parts of the body. Neurological and muscular disorders are commonly underlying arthrogryposis. Here, we report five affected individuals from three independent families sharing an overlapping phe...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 26f5f849-ec2a-50e7-9c5f-f5af7c26e559
DOI: 10.21203/rs.3.rs-2121654/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenitaDOI 10.21203/rs.3.rs-2121654/v1Read

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly.Semantic proximity Read

Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.Semantic proximity Read

Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.Semantic proximity Read

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)Semantic proximity Read

Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype.Semantic proximity Read

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.Semantic proximity Read

Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.Semantic proximity Read

The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis.Semantic proximity Read

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.Semantic proximity Read

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.Semantic proximity Read

Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.Semantic proximity Read

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.Semantic proximity Read