Rare ACTG1 variants in fetal microlissencephaly

Heterozygous ACTG1 mutations are responsible for Baraitser–Winter cerebrofrontofacial syndrome which cortical malformation is characterized by pachygyria with frontal to occipital gradient of severity.

Gespeichert in:

Autor*in:	Poirier, Karine [verfasserIn] Martinovic, Jelena Laquerrière, Annie Cavallin, Mara Fallet-Bianco, Catherine Desguerre, Isabelle Valence, Stephanie Grande-Goburghun, Jocelyne Francannet, Christine Deleuze, Jean-François Boland, Anne Chelly, Jamel Bahi-Buisson, Nadia

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2015

Schlagwörter:	Baraitser–Winter syndrome Microlissencephaly

Umfang:	3

Übergeordnetes Werk:	Enthalten in: Edge minimization in de Bruijn graphs - Baier, Uwe ELSEVIER, 2021, New York, NY [u.a.]
Übergeordnetes Werk:	volume:58 ; year:2015 ; number:8 ; pages:416-418 ; extent:3

Links:	Volltext

DOI / URN:	10.1016/j.ejmg.2015.06.006

Katalog-ID:	ELV018490549

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title_sort	rare actg1 variants in fetal microlissencephaly
title_auth	Rare ACTG1 variants in fetal microlissencephaly
abstract	Heterozygous ACTG1 mutations are responsible for Baraitser–Winter cerebrofrontofacial syndrome which cortical malformation is characterized by pachygyria with frontal to occipital gradient of severity.
abstractGer	Heterozygous ACTG1 mutations are responsible for Baraitser–Winter cerebrofrontofacial syndrome which cortical malformation is characterized by pachygyria with frontal to occipital gradient of severity.
abstract_unstemmed	Heterozygous ACTG1 mutations are responsible for Baraitser–Winter cerebrofrontofacial syndrome which cortical malformation is characterized by pachygyria with frontal to occipital gradient of severity.
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Rare ACTG1 variants in fetal microlissencephaly

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