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Article

Hydranencephaly in CENPJ-related Seckel syndrome.

European journal of medical genetics - 1 Dec 2022

Cuccurullo Claudia, Miele Giuseppina, Piccolo Gianluca, Bilo Leonilda, Accogli Andrea, D'Amico Alessandra, Fratta Mario, Guerrisi Sara, Iacomino Michele, Salpietro Vincenzo, Ugga Lorenzo, Striano Pasquale, Coppola Antonietta

Abstract excerpt

Pathogenic variants in CENPJ have been first identified in consanguineous Pakistani families with Hereditary Primary Microcephaly type 6 (MCPH6). In addition to primary microcephaly, the CENPJ-related phenotypic spectrum lately included also distinctive and peculiar 'bird-like' craniofacial dysmorphisms, intrauterine and/or postnatal growth retardation, and moderate to severe intellectual disability (ID). These...

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PMID: 36334884
DOI: 10.1016/j.ejmg.2022.104659

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