Article
Identification of the novel SDR42E1 gene that affects steroid biosynthesis associated with the oculocutaneous genital syndrome.
Experimental eye research - 1 Aug 2021
Bouhouche Ahmed, Albaroudi Nada, El Alaoui My Abdelaziz, Askander Omar, Habbadi Zineb, El Hassani Amine, Iraqi Hinde, El Fahime Elmostafa, Belmekki Mohammed
Abstract excerpt
Hereditary connective tissue diseases form a heterogeneous group of disorders that affect collagen and extracellular matrix components. The cornea and the skin are among the major forms of connective tissues, and syndromes affecting both organs are often due to mutations in single genes. Brittle cornea syndrome is one of the pathologies that illustrates this association well. Furthermore, sex hormones are known...
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