CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes

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7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder.Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

P2860

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P2860

CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes

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2016 nî lūn-bûn

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2016年の論文

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CANPMR syndrome and chromosome ...... iency of CAMTA1 and NIFA genes

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CANPMR syndrome and chromosome ...... iency of CAMTA1 and NIFA genes

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CANPMR syndrome and chromosome ...... iency of CAMTA1 and NIFA genes

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P1476

CANPMR syndrome and chromosome ...... iency of CAMTA1 and NIFA genes

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Armin Stelzner

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Christian Fink

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Emanuele G Coci

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Hendrik Langen

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Joachim Riedel

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Udo Koehler

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P2860

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects

Chromosomal localization of the four genes (NFIA, B, C, and X) for the human transcription factor nuclear factor I by FISH

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development

Essential role for NFI-C/CTF transcription-replication factor in tooth root development

The transcription factor gene Nfib is essential for both lung maturation and brain development

Non-progressive congenital ataxia with cerebellar hypoplasia in three families.

Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity.

P2888

s13039-016-0219-y

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scholarly article

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10.1186/S13039-016-0219-Y

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Thomas Liehr

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2016-02-03T00:00:00Z

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1006119670

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26848311

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chromosome 1p32-p31 deletion syndrome

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4741010

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CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes

about

P2860

P2860

CANPMR syndrome and chromosome 1p32-p31 deletion syndrome coexist in two related individuals affected by simultaneous haplo-insufficiency of CAMTA1 and NIFA genes

description

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