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Article

Distal arthrogryposis: a new type with distinct facial appearance and absent teeth.

Journal of medical genetics - 1 Jul 2001

Beals R K, LaFranchi S

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Identifiers

PMID: 11432965
DOI: 10.1136/jmg.38.7.e22
PMCID: PMC1757183

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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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Distal arthrogryposis: a new type with distinct facial appearance and absent teeth.PMID 11432965Read ↗

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Heterogenic Genetic Background of Distal Arthrogryposis—Review of the Literature and Case ReportSemantic proximity Read ↗

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Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.Semantic proximity Read ↗

Findings, phenotypes, and outcomes in Freeman-Sheldon and Sheldon-Hall syndromes and distal arthrogryposis types 1 and 3: protocol for systematic review and patient-level data meta-analysis.Semantic proximity Read ↗

Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype.Semantic proximity Read ↗

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Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5.Semantic proximity Read ↗

Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.Semantic proximity Read ↗

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