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Terminal Osseous Dysplasia with Pigmentary Defects Maps to Human Chromosome Xq27.3-Xqter

We have identified a four-generation family with 10 affected females manifesting one or more of the following features: osseous dysplasia involving the metacarpals, metatarsals, and phalanges leading to brachydactyly, camptodactyly, and other digital deformities; pigmentary defects on the face and s...

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Bibliografiske detaljer
Main Authors: Zhang, Wenzheng, Amir, Ruthie, Stockton, David W., Van den Veyver, Ignatia B., Bacino, Carlos A., Zoghbi, Huda Y.
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2000
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288215/
https://ncbi.nlm.nih.gov/pubmed/10739772
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