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Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome

Heterozygous mutations in MSX2 are responsible for an autosomal dominant form of parietal foramina (PFM). PFM are oval defects of the parietal bones that are also a characteristic feature of a contiguous gene–deletion syndrome caused by a proximal deletion in the short arm of chromosome 11 (Potocki-...

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Bibliografiske detaljer
Main Authors: Wu, Yuan-Qing, Badano, Jose L., McCaskill, Christopher, Vogel, Hannes, Potocki, Lorraine, Shaffer, Lisa G.
Format: Artigo
Sprog:Inglês
Udgivet: The American Society of Human Genetics 2000
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288575/
https://ncbi.nlm.nih.gov/pubmed/11017806
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