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Article

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

Neurology - 24 May 2016

Aran Adi, Rosenfeld Nuphar, Jaron Ranit, Renbaum Paul, Zuckerman Shachar, Fridman Hila, Zeligson Sharon, Segel Reeval, Kohn Yoav, Kamal Lara, Kanaan Moien, Segev Yoram, Mazaki Eyal, Rabinowitz Ron, Shen Ori, Lee Ming, Walsh Tom, King Mary Claire, Gulsuner Suleyman, Levy-Lahad Ephrat

Abstract excerpt

OBJECTIVE: To identify the genetic basis of a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability. METHODS: Identification of the responsible gene by whole exome sequencing and homozygosity mapping. RESULTS: Ten patients from 4 consanguineous Palestinian families manifested in utero...

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Source

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Identifiers

PMID: 27164683
DOI: 10.1212/WNL.0000000000002704
PMCID: PMC4887125

Genes

PCDH12
JAM3
OCLN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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