William Dobyns to Skin
This is a "connection" page, showing publications William Dobyns has written about Skin.
Connection Strength
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Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. Am J Hum Genet. 2017 Oct 05; 101(4):552-563.
Score: 0.030
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ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet. 2012 May; 44(5):575-80.
Score: 0.021
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Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy. Neurology. 1991 Feb; 41(2 ( Pt 1)):266-71.
Score: 0.019