Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
about
Congenital cataracts-facial dysmorphism-neuropathyAtaxia.Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndromeAutosomal recessive cerebellar ataxias.Genetic landmarks through philately: Georges Marinesco (1863-1938).Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.Rhabdomyolysis: a genetic perspective.Marinesco-Sjögren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex.Myopathy is a prominent feature in Marinesco-Sjögren syndrome: A muscle computed tomography study.Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1.Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis.Vlax Roma history: what do coalescent-based methods tell us?
P2860
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P2860
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
@en
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
@nl
type
label
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
@en
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
@nl
prefLabel
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
@en
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
@nl
P2093
P356
P1433
P1476
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
@en
P2093
Angelicheva D
Hallmayer J
Kalaydjieva L
Lochmüller H
Müller-Felber W
P304
P356
10.1212/WNL.58.2.231
P407
P577
2002-01-01T00:00:00Z