Blake's pouch cyst in 13q deletion syndrome: Posterior fossa malformations may occur due to disruption of multiple genes

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Blake's pouch cyst in 13q deletion syndrome: Posterior fossa malformations may occur due to disruption of multiple genes

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im Juli 2017 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в липні 2017

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Blake's pouch cyst in 13q dele ...... o disruption of multiple genes

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Blake's pouch cyst in 13q dele ...... o disruption of multiple genes

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Blake's pouch cyst in 13q dele ...... o disruption of multiple genes

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Blake's pouch cyst in 13q dele ...... o disruption of multiple genes

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Blake's pouch cyst in 13q dele ...... o disruption of multiple genes

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Blake's pouch cyst in 13q dele ...... o disruption of multiple genes

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P1476

Blake's pouch cyst in 13q dele ...... o disruption of multiple genes

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Gregory J Fitt

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Harvey B Sarnat

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Mark R Newton

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Mathew J Wallis

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P2860

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

VISTA Enhancer Browser--a database of tissue-specific human enhancers

Blake's pouch cyst

The ZIC gene family encodes multi-functional proteins essential for patterning and morphogenesis.

Phenotypical characterization of 13q deletion syndrome: Report of two cases.

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.

Prenatal diagnosis and molecular cytogenetic characterization of de novo partial trisomy 7p (7p15.3→pter) and partial monosomy 13q (13q33.3→qter) associated with Dandy-Walker malformation, abnormal skull development and microcephaly.

13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patients.

Zic2 is required for neural crest formation and hindbrain patterning during mouse development.

Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.

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2442-2445

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scholarly article

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10.1002/AJMG.A.38346

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English

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173

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Kenneth Myers

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2017-07-07T00:00:00Z

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28686337

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