Related Articles
X‑linked ichthyosis and Crigler‑Najjar syndrome Ⅰ: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3
Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X‑linked Alport syndrome
Identification of novel variations in three cases with rare inherited neuromuscular disorder
Autosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene
Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report