A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family
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DOI: 10.1002/mgg3.2042
Abstract: Distal arthrogryposis (DA) is a group of congenital autosomal‐dominant disorders secondary to defects in joint and muscle function, characterized by multiple joint contractures of the hands and feet. DA can be divided into 10 types… read more here.
Keywords: tnni2 variant; variant 525g; causes distal; distal arthrogryposis ... See more keywords
Long term ophthalmic complications of distal arthrogryposis type 5D
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DOI: 10.1080/13816810.2022.2141791
Abstract: ABSTRACT Background Distal Arthrogryposis type 5D (DA5D) is a rare genetic disease, expressed phenotypically by skeletal and ocular abnormalities. Materials and methods Two sisters, ages 42 and 46 years old, were ascertained, both diagnosed with arthrogryposis… read more here.
Keywords: long term; ophthalmic complications; arthrogryposis type; distal arthrogryposis ... See more keywords
Functional loss of ubiquitin‐specific protease 14 may lead to a novel distal arthrogryposis phenotype
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DOI: 10.1111/cge.14117
Abstract: Multiple congenital contractures (MCC) comprise a number of rare, non‐progressive conditions displaying marked phenotypic and etiologic heterogeneity. A genetic cause can be established in approximately half of the affected individuals, attributed to genetic defects in… read more here.
Keywords: ubiquitin specific; distal arthrogryposis; specific protease; phenotype ... See more keywords
Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant
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DOI: 10.3389/fgene.2022.955041
Abstract: Background: Sheldon–Hall syndrome (SHS) or distal arthrogryposis 2B (DA2B) is a rare clinically and genetically heterogeneous multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs and mild facial involvement, due… read more here.
Keywords: tnnt3; distal arthrogryposis; sheldon hall; pathogenic variant ... See more keywords