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Article

SHORT syndrome with microcephaly and developmental delay.

American journal of medical genetics. Part A - 1 Mar 2023

Patel Viraj, Cui Wei, Cobben Jan M

Abstract excerpt

We report a boy with typical clinical features of SHORT syndrome alongside a significant microcephaly and severe developmental delay associated with a de novo single nucleotide missense DNA variant resulting in a single amino acid change in codon 486 of the PIK3R1 gene (PIK3R1 c.1456G>A (p.Ala486Thr)). Our report strikingly coincides with another recently published case from Brazil, describing a 23-year-old woman...

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Identifiers

PMID: 36515361
DOI: 10.1002/ajmg.a.63078

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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