Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.
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Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutationDiagnosis and treatment of digitocutaneous dysplasia, a rare infantile digital fibromatosis: a case reportTerminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders.
P2860
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region.
description
2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
@zh-cn
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@zh-hans
2010年学术文章
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name
Terminal osseous dysplasia wit ...... inement of the linkage region.
@en
Terminal osseous dysplasia wit ...... inement of the linkage region.
@nl
type
label
Terminal osseous dysplasia wit ...... inement of the linkage region.
@en
Terminal osseous dysplasia wit ...... inement of the linkage region.
@nl
prefLabel
Terminal osseous dysplasia wit ...... inement of the linkage region.
@en
Terminal osseous dysplasia wit ...... inement of the linkage region.
@nl
P2093
P2860
P50
P356
P1476
Terminal osseous dysplasia wit ...... inement of the linkage region.
@en
P2093
Carlos A Bacino
Ignatia B Van Den Veyver
Ralph Lachman
Suzanne M Leal
P2860
P304
P356
10.1002/AJMG.A.33470
P407
P577
2010-07-01T00:00:00Z