The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

doi:10.1186/1750-1172-9-25

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

Orphanet journal of rare diseases - 14 Feb 2014

Curie Aurore, Nazir Tatjana, Brun Amandine, Paulignan Yves, Reboul Anne, Delange Karine, Cheylus Anne, Bertrand Sophie, Rochefort Fanny, Bussy Gérald, Marignier Stéphanie, Lacombe Didier, Chiron Catherine, Cossée Mireille, Leheup Bruno, Philippe Christophe, Laugel Vincent, De Saint Martin Anne, Sacco Silvia, Poirier Karine, Bienvenu Thierry, Souville Isabelle, Gilbert-Dussardier Brigitte, Bieth Eric, Kauffmann Didier, Briot Philippe, de Fréminville Bénédicte, Prieur Fabienne, Till Michel, Rooryck-Thambo Caroline, Mortemousque Isabelle, Bobillier-Chaumont Isabelle, Toutain Annick, Touraine Renaud, Sanlaville Damien, Chelly Jamel, Freeman Sonya, Kong Jian, Hadjikhani Nouchine, Gollub Randy L, Roy Alice, des Portes Vincent

Abstract excerpt

BACKGROUND: The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. While in certain cases c.429_452dup24 has been associated with specific clinical patterns such as Partington syndrome, the consequence of this mutation...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Apraxias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Biomechanical Phenomena

Share to Down Syndrome

Share to Extremities

Share to Gene Duplication

Share to Homeodomain Proteins

Share to Models, Biological

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 24528893
DOI: 10.1186/1750-1172-9-25
PMCID: PMC4016261

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24528893-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 9 closest

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.PMID 24528893Read ↗

Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?Semantic proximity Read ↗

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability.Semantic proximity Read ↗

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.Semantic proximity Read ↗

Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.Semantic proximity Read ↗

Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.Semantic proximity Read ↗

Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.Semantic proximity Read ↗

New X-linked syndrome with apraxia, ataxia, and mental deficiency: clinical, cytogenetic and neuropsychological studies in two Danish families.Semantic proximity Read ↗

Atypical rigid form of Huntington's disease: a case with peripheral amyotrophy and congenital defects of a lower limb.Semantic proximity Read ↗

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.