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An insertion mutation in <italic>HOXC13</italic> underlies pure hair and nail ectodermal dysplasia with lacrimal duct obstruction.
- Published in:
- 2018
- By:
- Publication type:
- Letter to the Editor
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.
- Published in:
- Journal of the European Academy of Dermatology & Venereology, 2022, v. 36, n. 9, p. 1606, doi. 10.1111/jdv.18207
- By:
- Publication type:
- Article
Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 2, p. 334, doi. 10.1111/ene.14082
- By:
- Publication type:
- Article