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Article

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Jun 2018

Hu Tommy, Kruszka Paul, Martinez Ariel F, Ming Jeffrey E, Shabason Emily K, Raam Manu S, Shaikh Tamim H, Pineda-Alvarez Daniel E, Muenke Maximilian

Abstract excerpt

Holoprosencephaly (HPE), a common developmental forebrain malformation, is characterized by failure of the cerebrum to completely divide into left and right hemispheres. The etiology of HPE is heterogeneous and a number of environmental and genetic factors have been identified. Cytogenetically visible alterations occur in 25% to 45% of HPE patients and cytogenetic techniques have long been used to study copy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30182442
DOI: 10.1002/ajmg.c.31622
PMCID: PMC6127867

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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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