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Details on Person The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature
| Class:Id | LiteratureReference:3730911 |
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| _displayName | The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature |
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| _timestamp | 2013-06-17 09:32:05 |
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| author | [Person:3730925] Langer, L O
[Person:3730915] Krassikoff, N
[Person:3730954] Laxova, R
[Person:3730955] Scheer-Williams, M
[Person:3730967] Lutter, L D
[Person:3730920] Gorlin, R J
[Person:3730982] Jennings, C G
[Person:3730990] Day, D W |
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| created | [InstanceEdit:3730939] Jassal, B, 2013-06-17 |
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| journal | Am. J. Med. Genet. |
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| pages | 81-112 |
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| pubMedIdentifier | 6496574 |
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| title | The tricho-rhino-phalangeal syndrome with exostoses (or Langer-Giedion syndrome): four additional patients without mental retardation and review of the literature |
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| volume | 19 |
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| year | 1984 |
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| (literatureReference) | [Pathway:3656253] Defective EXT1 causes exostoses 1, TRPS2 and CHDS [Homo sapiens]
[FailedReaction:3656257] Defective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparan [Homo sapiens]
[FailedReaction:3656261] Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the heparan chain [Homo sapiens]
[FailedReaction:9036283] Defective EXT1 (in EXT1:EXT2) does not transfer GlcNAc to the terminal GlcA residue [Homo sapiens]
[FailedReaction:9036285] Defective EXT1 (in EXT1:EXT2) does not transfer GlcA to heparan [Homo sapiens] |
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