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PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.
The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.
🥇 Meta-análiseRBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasia.
Focal dermal hypoplasia: report of a case with myelomeningocele, Arnold-Chiari malformation and hydrocephalus with a review of neurologic manifestations of Goltz syndrome.