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Paper Details

De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.
Hum Genet
8
2018
Eye abnormalities, Leu1501Argfs, PRR12, PRR12 gene, Pro304Thrfs, Pro304Thrfs*46, anxiety, autism, c, c.1918G, c.4502_4505delTGCC, c.903_909dup, developmental delay, dysmorphic features, eye and vision abnormalities, girl, haploinsufficiency of PRR12, human, hypotonia, intellectual disability, iris abnormalities, iris coloboma, multisystem neurodevelopmental disorder, neuropsychiatric alterations, neuropsychiatric problems, patients, proline, skeletal abnormalities, stellate iris pattern, t(10;19) (q22
Author NameAffiliation
Susan J HayflickOregon Health and Sciences University
Yaping YangBaylor College of Medicine
Yaping Yang
Weimin BiBaylor College of Medicine
Weimin Bi
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