Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: Expansion of the facial and neuroimaging features

Authors:	Beyhan Tüysüz Kaya Bilguvar Naci Koçer Cengiz Yalçınkaya Okay Çağlayan Ece Gül Sezgin Şahin Sinan Çomu Murat Günel

Affiliation:	1. Department of Pediatric Genetics, Cerrahpa?a Medical School, Istanbul University, Istanbul, Turkey;2. Correspondence to:;3. Beyhan Tüysüz, Istanbul Universitesi, Cerrahpasa T?p Fakültesi, ?ocuk Klini?i, Cerrahpasa Istanbul/Turkey.;4. E‐mail:;5. Department of Neurosurgery, Program on Neurogenetics, Yale School of Medicine, New Haven, Connecticut;6. Department of Neuroradiology, Cerrahpa?a Medical School, Istanbul University, Istanbul, Turkey;7. Department of Pediatric Neurology, Cerrahpa?a Medical School, Istanbul University, Istanbul, Turkey;8. Private Practice, Pediatric Neurology, Levent, Istanbul, Turkey

Abstract:

Keywords:	adaptor protein AP4M1 AP4B1 intellectual disability spastic tetraplegia