Ontology highlight
ABSTRACT:
SUBMITTER: Martinez AF
PROVIDER: S-EPMC6125181 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Martinez Ariel F AF Kruszka Paul S PS Muenke Maximilian M
American journal of medical genetics. Part C, Seminars in medical genetics 20180515 2
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 "single-gene" mutations, suggesting that the NCNS-HPE phenotype can be more complex ...[more]