Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene

Autor: Gregorio Serra, Vincenzo Antona, Maria Rita Di Pace, Mario Giuffrè, Giusy Morgante, Ettore Piro, Roberto Pirrello, Sergio Salerno, Ingrid Anne Mandy Schierz, Vincenzo Verde, Giovanni Corsello

Publikováno v: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-7 (2022)

Abstract Background Osteopathia Striata with Cranial Sclerosis (OS-CS), also known as Horan-Beighton Syndrome, is a rare genetic disease; about 90 cases have been reported to date. It is associated with mutations (heterozygous for female subjects and

Externí odkaz: https://doaj.org/article/da61e53b53284d9a9371d6933387a6ab

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Osteopathia Striata with Cranial Sclerosis

Autor: Gear R; Victorian Clinical Genetics Services Murdoch Children's Research Institute Parkville, Victoria, Australia, Savarirayan R; Victorian Clinical Genetics Services Murdoch Children's Research Institute Parkville, Victoria, Australia; University of Melbourne Melbourne, Australia

Publikováno v: 1993.