Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population

• 主要な著者: Niaz Muhammad Khan (著者), Basharat Hussain (著者), Chenqing Zheng (著者), Ayaz Khan (著者), Muhammad Shareef Masoud (著者), Qingquan Gu (著者), Linhui Qiu (著者), Naveed Altaf Malik (著者), Muhammad Qasim (著者), Muhammad Tariq (著者), Junlei Chang (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2021-07-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Microcephaly (MCPH) is a genetically heterogeneous disorder characterized by non-progressive intellectual disability, small head circumference, and small brain size compared with the age- and sex-matched population. MCPH manifests as an isolated condition or part of another clinical syndrome; so far...