Aplasia Cutis CongenitaSymptoms, Doctors, Treatments, Advances & More
Aplasia Cutis Congenita Overview
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Joyce Teng is a Dermatologist and a Pediatrics provider practicing medicine in Palo Alto, California. Dr. Teng is rated as an Elite provider by MediFind in the treatment of Aplasia Cutis Congenita. She is also highly rated in 138 other conditions, according to our data. Her clinical expertise encompasses Lamellar Ichthyosis, Nonbullous Congenital Ichthyosiform Erythroderma, Nevoid Basal Cell Carcinoma Syndrome, Dowling-Meara Epidermolysis Bullosa Simplex, and Liver Embolization.
Dawn Siegel is a Dermatologist and a Pediatrics provider practicing medicine in Palo Alto, California. Dr. Siegel is rated as an Elite provider by MediFind in the treatment of Aplasia Cutis Congenita. She is also highly rated in 43 other conditions, according to our data. Her clinical expertise encompasses PHACE Syndrome, Hemangioma, Aplasia Cutis Congenita, and Clouston Syndrome.
Ilona Frieden is a Pediatrics provider practicing medicine in San Francisco, California. Dr. Frieden is rated as an Elite provider by MediFind in the treatment of Aplasia Cutis Congenita. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses PHACE Syndrome, Hemangioma, Clouston Syndrome, and Ectodermal Dysplasias.
Summary: Objective With this prospective natural experiment trial on neurofibromatosis type 2 (NF2) study, we hope to understand the factors leading to tumor progression and neurological disease burden in NF2. Study Population A total of 269 participants, ages 8-75, with a clinical or genetic diagnosis of NF2 will participate in this study. Design Study participants will be evaluated with a thorough physic...
Summary: Brain somatic mutations affecting genes of the mTOR signaling pathway are a well-established cause of cortical malformations, including focal cortical dysplasia and hemimegalencephaly. Somatic mutations in SLC35A2 have been identified in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE), while activating somatic mutations in the SHH pathway are associa...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center