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Article

Extracephalic manifestations of nonchromosomal, nonsyndromic holoprosencephaly.

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

Martinez Ariel F, Kruszka Paul S, Muenke Maximilian

Abstract excerpt

Nonchromosomal, nonsyndromic holoprosencephaly (NCNS-HPE) has traditionally been considered as a condition of brain and craniofacial maldevelopment. In this review, we present the results of a comprehensive literature search supporting a wide spectrum of extracephalic manifestations identified in patients with NCNS-HPE. These manifestations have been described in case reports and in large cohorts of patients with...

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Identifiers

PMID: 29761634
DOI: 10.1002/ajmg.c.31616
PMCID: PMC6125181

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