|
|||||
|
|
Congenital nasal pyriform aperture stenosis and ocular albinism co‐occurring in a sibship with a maternally‐inherited 97 kb Xp22.2 microdeletion |
|
| Authors: | David Somsen Laura Davis‐Keppen Patricia Crotwell Jason Flanagan Patrick Munson Quinn Stein |
| Affiliation: | 1. Sanford School of Medicine of the University of South Dakota, Sioux Falls, South Dakota;2. Sanford Medical Genetics Laboratory, Sioux Falls, South Dakota |
| Abstract: | |
| Keywords: | congenital nasal pyriform aperture stenosis cnpas ocular albinism GPR143 TBL1X, SHROOM2 |