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Stanier, Philippe
One or more keywords matched the following items that are connected to
Stanier, Philippe
Item Type
Name
Concept
Abnormalities, Multiple
Academic Article
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Academic Article
Tbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes.
Academic Article
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Academic Article
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate.
Academic Article
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.
Search Criteria
Abnormalities Multiple