Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
about
A lot of nexts: Next-generation sequencing, databases, and neurologists.Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.Cerebral Manifestations of Mitochondrial Disorders.Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.What's new in pontocerebellar hypoplasia? An update on genes and subtypes.A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9
P2860
Q36729148-F02834F1-9251-4D4C-9D39-710C1A4115FCQ38617096-EB1468A2-8B4A-420F-8D12-ABD8EC99DA2AQ41330979-12CABE40-B263-4E15-B7E6-834C36631AF8Q47640125-44B7B320-C503-4F0B-B96A-0FC1ABAED839Q49789382-6F2C37B9-E267-4CC1-89CE-F07959971548Q55441218-DE423BDE-B9B5-4C07-AE4C-FA7F58190EB0Q57905686-28FCAC66-112E-4007-AC22-EAC381E59B3B
P2860
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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name
Complete callosal agenesis, po ...... l neuropathy due to AMPD2 loss
@ast
Complete callosal agenesis, po ...... l neuropathy due to AMPD2 loss
@en
type
label
Complete callosal agenesis, po ...... l neuropathy due to AMPD2 loss
@ast
Complete callosal agenesis, po ...... l neuropathy due to AMPD2 loss
@en
prefLabel
Complete callosal agenesis, po ...... l neuropathy due to AMPD2 loss
@ast
Complete callosal agenesis, po ...... l neuropathy due to AMPD2 loss
@en
P2093
P2860
P50
P1433
P1476
Complete callosal agenesis, po ...... l neuropathy due to AMPD2 loss
@en
P2093
Catherine Bromhead
Elliott H Sherr
Eppie M Yiu
George McGillivray
Joe C H Sim
Martin B Delatycki
Melanie Bahlo
Monique M Ryan
Richard J Leventer
P2860
P356
10.1212/NXG.0000000000000014
P577
2015-07-16T00:00:00Z