Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism
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Genetics and genomic medicine in Morocco: the present hope can make the future brightFrontonasal Dysplasia: Towards an Understanding of Molecular and Developmental Aetiology.Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation.
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Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
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scientific article published on 26 December 2015
@en
vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism
@en
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
@nl
type
label
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism
@en
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
@nl
prefLabel
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism
@en
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
@nl
P2093
P2860
P50
P356
P1433
P1476
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism
@en
P2093
K A Miller
L K Hansen
S C Elalaoui
P2860
P304
P356
10.1111/CGE.12721
P577
2015-12-26T00:00:00Z