Article
An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3).
American journal of medical genetics. Part A - 1 Jul 2016
Dimitri Paul, De Franco Elisa, Habeb Abdelhadi M, Gurbuz Fatih, Moussa Khairya, Taha Doris, Wales Jerry K H, Hogue Jacob, Slavotinek Anne, Shetty Ambika, Balasubramanian Meena
Abstract excerpt
Neonatal diabetes and hypothyroidism (NDH) syndrome was first described in 2003 in a consanguineous Saudi Arabian family where two out of four siblings were reported to have presented with proportionate IUGR, neonatal non-autoimmune diabetes mellitus, severe congenital hypothyroidism, cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was...
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