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Article

Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boy.

Clinical dysmorphology - 1 Jan 2017

Cartwright Ashley, Smith Kath, Balasubramanian Meena

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Share to Chromosome Deletion
Share to Chromosomes, Human, X
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27753653
DOI: 10.1097/MCD.0000000000000154

Genes

PAK3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Short case report: Xq23 deletion involving PAK3 as a novel cause of developmental delay in a 6-year-old boy.PMID 27753653Read ↗

Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 Perturbation.Semantic proximity Read ↗

Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature.Semantic proximity Read ↗

Case Report: A Case Report and Literature Review of 3p Deletion SyndromeSemantic proximity Read ↗

Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3.Semantic proximity Read ↗

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.Semantic proximity Read ↗

A girl with a 14.7 Mb 3q26.32-q28 duplication: a new report of 3q duplication syndrome and a literature review.Semantic proximity Read ↗

A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.Semantic proximity Read ↗

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.Semantic proximity Read ↗

A novel PANK2 gene mutation in a Persian boy: the first report from Iran.Semantic proximity Read ↗

PAK3 mutation in nonsyndromic X-linked mental retardation.Semantic proximity Read ↗

ANKRD11 gene deletion in a 17-year-old male.Semantic proximity Read ↗

[Analysis of a child with X-linked intellectual disability due to a maternal de novo splicing variant of the PAK3 gene].Semantic proximity Read ↗

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