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

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 hemizygous for males) of the AMER1 gene, located at Xq11....

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Detalles Bibliográficos
Autores principales: Serra, Gregorio, Antona, Vincenzo, Di Pace, Maria Rita, Giuffrè, Mario, Morgante, Giusy, Piro, Ettore, Pirrello, Roberto, Salerno, Sergio, Schierz, Ingrid Anne Mandy, Verde, Vincenzo, Corsello, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9801547/
https://www.ncbi.nlm.nih.gov/pubmed/36581928
http://dx.doi.org/10.1186/s13052-022-01403-6

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