Expanding the natural history of CASK‐related disorders to the prenatal period

Aim To assess whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with calcium/calmodulin‐dependent serine protein kinase (CASK) gene disorders. Method In this international multicentre retrospective study, we contacted a CASK parent...

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Bibliographic Details

Published in:	Developmental medicine and child neurology Vol. 65; no. 4; pp. 544 - 550
Main Authors:	Gafner, Michal, Boltshauser, Eugen, D'Abrusco, Fulvio, Battini, Roberta, Romaniello, Romina, D'Arrigo, Stefano, Zanni, Ginevra, Leibovitz, Zvi, Yosovich, Keren, Lerman‐Sagie, Tally, Buchignani, Bianca, Gindes, Liat, Lev, Dorit, Shariv, Avi, Schreiber, Letizia, Ciaccio, Claudia, Cerovac, Natasa, Brankovic, Vesna, Valente, Enza Maria, Bertini, Enrico Silvio, Nicita, Francesco
Format:	Journal Article
Language:	English
Published:	England 01-04-2023
Subjects:	Female Fetus Gestational Age Humans Infant Infant, Newborn Male Microcephaly - diagnosis Nervous System Malformations - genetics Pregnancy Retrospective Studies
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