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Article

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.

Clinical genetics - 1 Apr 2020

Agolini Emanuele, Cherchi Claudio, Bellacchio Emanuele, Martinelli Diego, Cocciadiferro Dario, Cutrera Renato, Chiarini Testa Maria B, Barone Chiara, Bianca Sebastiano, Novelli Antonio

Abstract excerpt

Arthrogryposis multiplex congenita (AMC) is defined as congenital, non-progressive contractures in more than two joints and in multiple body areas, resulting from reduced fetal mobility. So far, more than 400 causative genes for AMC have been identified. Some isolated AMC phenotypes arise as a result of mutations in genes encoding components required for motor neuron structure, function, and myelination, as in...

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PMID: 31846058
DOI: 10.1111/cge.13691

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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