A patient with mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratodermia syndrome caused by AP1B1 gene variant.
作者信息
Meriç Rüya, Ercan-Sencicek Adife Gülhan, Uludağ Alkaya Dilek, Şahin Yasin, Sar Mehmet, Bilguvar Kaya, Tüysüz Beyhan
机构信息
Department of Pediatric Genetics, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Department of Neurosurgery, Program on Neurogenetics, Yale Medical School, Yale University, New Haven, Connecticut, USA.
出版信息
Clin Dysmorphol. 2021 Jan;30(1):54-57. doi: 10.1097/MCD.0000000000000350.
PMID:32969855
Abstract
摘要
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